All variants in the UBQLN2 gene

Information The variants shown are described using the NM_013444.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
?/. 1 c.128A>G r.(?) p.(Lys43Arg) - - g.56590434A>G J Y Chen, et al. (2021) UBQLN2_000015 - XY Liu
?/. 1 c.142G>T r.(?) p.(Val48Leu) - - g.56590448G>T J Y Chen, et al. (2021) UBQLN2_000016 - XY Liu
./. 1 c.845C>T r.(?) p.(Ala282Val) - - g.56591151C>T Synofzik M et al. (2012) UBQLN2_000005 - XY Liu
./. 1 c.847G>A r.(?) p.(Ala283Thr) - - g.56591153G>A Synofzik M et al. (2012) UBQLN2_000006 - XY Liu
./. 1 c.942T>A r.(?) p.(Asp314Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.56591248T>A Kim HJ1, Kwon MJ2, Choi WJ3, Oh KW3, Oh SI3, Ki CS4, Kim SH5.(2014) UBQLN2_000001 - Y Yang
+/. 1 c.1174A>G r.(?) p.(Met392Val) - - g.56591480A>G Huang X et al. (2017) UBQLN2_000003 - XY Liu
./. 1 c.1176G>T r.(?) p.(Met392Ile) - - g.56591482G>T Huang X et al. (2017) UBQLN2_000004 - XY Liu
./. 1 c.1274A>G r.(?) p.(Gln425Arg) - - g.56591580A>G Synofzik M et al. (2012) UBQLN2_000007 - XY Liu
?/. 1 c.1451T>G r.(?) p.(Val484Gly) - - g.56591757T>G J Y Chen, et al. (2021) UBQLN2_000017 - XY Liu
./. 1 c.1460C>T r.(?) p.(Thr487Ile) - - g.56591766C>T McCann EP et al. (2017) UBQLN2_000002 - XY Liu
?/. 1 c.1460C>T r.(?) p.(Thr487Ile) - - g.56591766C>T Kelly L Williams, Sadaf T Warraich, Shu Yang, Jennifer A Solski, Ruvini Fernando, Guy A Rouleau, Garth A Nicholson, Ian P Blair (2012) UBQLN2_000002 - XY Liu
?/. 1 c.1462G>A r.(?) p.(Ala488Thr) - - g.56591768G>A Elisa Teyssou, et al. (2017) UBQLN2_000014 - XY Liu
?/. 1 c.1481C>T r.(?) p.(Pro494Leu) - - g.56591787C>T Elisa Teyssou, et al. (2017) UBQLN2_000011 - XY Liu
?/. 1 c.1489C>T r.(?) p.(Pro497Ser) - - g.56591795C>T Elisa Teyssou, et al. (2017) UBQLN2_000010 - XY Liu
?/. 1 c.1489C>T r.(?) p.(Pro497Ser) - - g.56591795C>T Soragia Athina Gkazi, et al. (2019) UBQLN2_000010 - XY Liu
?/. 1 c.1498C>T r.(?) p.(Pro500Ser) - - g.56591804C>T Elisa Teyssou, et al. (2017) UBQLN2_000012 - XY Liu
-?/. 1 c.1500_1508del r.(?) p.(Gly502_Ile504del) - - g.56591806_56591814del Xiao Huang, et al. (2017) UBQLN2_000009 - XY Liu
?/. 1 c.1516C>G r.(?) p.(Pro506Ala) - - g.56591822C>G Elisa Teyssou, et al. (2017) UBQLN2_000013 - XY Liu
?/. 1 c.1516C>T r.(?) p.(Pro506Ser) - - g.56591822C>T Jaime Vengoechea, Marjorie P David, Shadi R Yaghi, Lori Carpenter, Stacy A Rudnicki (2013) UBQLN2_000008 - XY Liu
?/. 1 c.1516C>T r.(?) p.(Pro506Ser) - - g.56591822C>T Soragia Athina Gkazi, et al. (2019) UBQLN2_000008 - XY Liu
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