Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.A397del1

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
3 papers
NM_173477.5
p.A397del1
c.1189_1190delGGC
Surrounding Variants
3 papers
NM_173477.5
p.L396_A397del1
c.1188_1190delGCC
1 paper
NM_173477.5
p.A397D
c.1190C>A
1 paper
NM_173477.5
p.A397T
c.1189G>A
4 papers
NM_173477.5
p.L399fs
c.1195_1196fs
2 papers
NM_173477.5
p.L399P
c.1196T>C
2 papers
NM_173477.5
p.L396P
c.1187T>C
2 papers
NM_173477.5
p.L396Q
c.1187T>A
1 paper
NM_173477.5
p.L399delFs
c.1195_1196delAG
1 paper
NM_173477.5
p.E393D
c.1179G>T
1 paper
NM_173477.5
p.E393D
c.1179G>C
1 paper
NM_173477.5
p.E393_T394insG
c.1177_1181ins3
1 paper
NM_173477.5
p.F404L
c.1210T>C
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."