Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.L186_S187del2

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.L186_S187del2
c.556_560del6
Surrounding Variants
3 papers
NM_173477.5
p.R189Q
c.566G>A
1 paper
NM_173477.5
p.S184I
c.551G>T
1 paper
NM_173477.5
p.G196C
c.586G>T
2 papers
NM_173477.5
p.H198P
c.593A>C
1 paper
NM_173477.5
p.D174H
c.520G>C
1 paper
NM_173477.5
p.Q203*
c.607C>T
1 paper
NM_173477.5
p.A204D
c.611C>A
1 paper
NM_173477.5
p.R172G
c.514C>G
3 papers
NM_173477.5
p.E171*
c.511G>T
1 paper
NM_173477.5
p.T205T
c.615G>A
1 paper
NM_173477.5
p.G208G
c.624C>G
2 papers
NM_173477.5
p.R167R
c.501C>G
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