Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.D458V

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
18 papers
NM_173477.5
p.D458V
c.1373A>T
Surrounding Variants
2 papers
NM_173477.5
p.P453L
c.1358C>T
1 paper
NM_173477.5
p.P453S
c.1357C>T
1 paper
NM_173477.5
p.M450R
c.1349T>G
4 papers
NM_173477.5
p.R447W
c.1339C>T
1 paper
NM_173477.5
p.R447G
c.1339C>G
1 paper
NM_173477.5
p.R446Q
c.1337G>A
1 paper
NM_173477.5
p.A442delFs
c.1324delC
1 paper
NM_173477.5
p.A442fs
c.1324_1325fs
1 paper
NM_173477.5
p.K438fs
c.1312_1313fs
1 paper
NM_173477.5
p.K438E
c.1312A>G
1 paper
NM_173477.5
p.K437delFs
c.1311delC
1 paper
NM_173477.5
p.K437N
c.1311G>T
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