Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.A105V

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.A105V
c.314C>T
Surrounding Variants
1 paper
NM_173477.5
p.M104delFs
c.310delT
8 papers
NM_173477.5
p.M104V
c.310A>G
1 paper
NM_173477.5
p.T100K
c.299C>A
1 paper
NM_173477.5
p.M111I
c.333G>T
1 paper
NM_173477.5
p.M111I
c.333G>C
1 paper
NM_173477.5
p.M111I
c.333G>A
1 paper
NM_173477.5
p.A106_M111del6
c.316_332del18
1 paper
NM_173477.5
p.D97insFs
c.290dupA
1 paper
NM_173477.5
p.L117M
c.349C>A
1 paper
NM_173477.5
p.S119P
c.355T>C
1 paper
NM_173477.5
p.I91T
c.272T>C
1 paper
NM_173477.5
p.A122V
c.365C>T
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