Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.T299_D300insFs

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.T299_D300insFs
c.897_898ins7
Surrounding Variants
1 paper
NM_173477.5
p.G302R
c.904G>C
1 paper
NM_173477.5
p.G302A
c.905G>C
1 paper
NM_173477.5
p.G302D
c.905G>A
1 paper
NM_173477.5
p.F307_T308insFs
c.921_922ins4
1 paper
NM_173477.5
p.T308insFs
c.922_923ins4
2 papers
NM_173477.5
p.F307_T308insFs
c.920_923dup4
1 paper
NM_173477.5
p.A286_A289delFs
c.857_866del10
1 paper
NM_173477.5
p.R309insFs
c.926dupG
1 paper
NM_173477.5
p.R309fs
c.925_926fs
1 paper
NM_173477.5
p.L288delFs
c.862delG
1 paper
NM_173477.5
p.A286fs
c.856_857fs
1 paper
NM_173477.5
p.A286S
c.856G>T
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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."