Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.H157fs

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.H157fs
c.469_470fs
Surrounding Variants
1 paper
NM_173477.5
p.H157insFs
c.469dupC
1 paper
NM_173477.5
p.R155L
c.464G>T
1 paper
NM_173477.5
p.R155W
c.463C>T
1 paper
NM_173477.5
p.M161V
c.481A>G
2 papers
NM_173477.5
p.R167R
c.501C>G
1 paper
NM_173477.5
p.R146C
c.436C>T
1 paper
NM_173477.5
p.R145Q
c.434G>A
1 paper
NM_173477.5
p.A143A
c.429G>A
3 papers
NM_173477.5
p.E171*
c.511G>T
1 paper
NM_173477.5
p.A143fs
c.427_428fs
1 paper
NM_173477.5
p.E142*
c.424G>T
4 papers
NM_173477.5
p.E142K
c.424G>A
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