Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.S86C

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.S86C
c.257C>G
Surrounding Variants
1 paper
NM_173477.5
p.L84delFs
c.250delG
1 paper
NM_173477.5
p.F83Y
c.248T>A
1 paper
NM_173477.5
p.H79_S82delFs
c.236_246del11
1 paper
NM_173477.5
p.I91T
c.272T>C
1 paper
NM_173477.5
p.L81L
c.241C>T
1 paper
NM_173477.5
p.C80insFs
c.238dupT
1 paper
NM_173477.5
p.C80insFs
c.239_240insC
1 paper
NM_173477.5
p.C80insFs
c.238_239insC
1 paper
NM_173477.5
p.L78*
c.233T>A
1 paper
NM_173477.5
p.D97insFs
c.290dupA
1 paper
NM_173477.5
p.S74P
c.220T>C
1 paper
NM_173477.5
p.T100K
c.299C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."