Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.H327_R331insFs

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.H327_R331insFs
c.980_993dup14
Surrounding Variants
1 paper
NM_173477.5
p.D333D
c.999T>C
1 paper
NM_173477.5
p.H327N
c.979C>A
1 paper
NM_173477.5
p.D337V
c.1010A>T
2 papers
NM_173477.5
p.G338R
c.1012G>C
2 papers
NM_173477.5
p.G338R
c.1012G>A
1 paper
NM_173477.5
p.V339G
c.1016T>G
2 papers
NM_173477.5
p.R345W
c.1033C>T
1 paper
NM_173477.5
p.R345R
c.1033C>A
1 paper
NM_173477.5
p.F317insFs
c.950dupT
1 paper
NM_173477.5
p.Q347*
c.1039C>T
1 paper
NM_173477.5
p.T314N
c.941C>A
1 paper
NM_173477.5
p.R309insFs
c.926dupG
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