Varaico: Literature-Extracted Genetic Variants

Gene:USH1G

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
1–12 of 214 variants
18 papers
NM_173477.5
p.D458V
c.1373A>T
14 papers
NM_173477.5
p.L48P
c.143T>C
9 papers
NM_173477.5
p.W38*
c.113G>A
9 papers
NM_173477.5
p.L131_V132insFs
c.393_394insG
8 papers
NM_173477.5
p.W38*
c.114G>A
8 papers
NM_173477.5
p.M104V
c.310A>G
7 papers
NM_173477.5
p.G55Splc
c.164+5G>A
7 papers
NM_173477.5
p.S243*
c.728C>A
6 papers
NM_173477.5
p.K130E
c.388A>G
4 papers
NM_173477.5
p.K18*
c.52A>T
4 papers
NM_173477.5
p.P28L
c.83C>T
4 papers
NM_173477.5
p.V132fs
c.394_395fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."