Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.K136Q

USH1G

217 papers

RefSeq Summary

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher synd...

Pfam Domains

Ank_2aa 36–126UCSCAnkyrin repeats (3 copies)
SAM_1aa 387–447UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

USH1 protein network component sans

HGNC Alias Symbols

Sans; FLJ33924; ANKS4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173477.5
p.K136Q
c.406A>C
Surrounding Variants
1 paper
NM_173477.5
p.K136N
c.408G>T
1 paper
NM_173477.5
p.K136N
c.408G>C
1 paper
NM_173477.5
p.D137N
c.409G>A
1 paper
NM_173477.5
p.G133insFs
c.397dupG
9 papers
NM_173477.5
p.L131_V132insFs
c.393_394insG
2 papers
NM_173477.5
p.V132A
c.395T>C
4 papers
NM_173477.5
p.V132fs
c.394_395fs
1 paper
NM_173477.5
p.R141H
c.422G>A
1 paper
NM_173477.5
p.E142*
c.424G>T
4 papers
NM_173477.5
p.E142K
c.424G>A
1 paper
NM_173477.5
p.K130fs
c.388_389fs
6 papers
NM_173477.5
p.K130E
c.388A>G
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