Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.P129_K130insFs

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
2 papers
NM_173477.5
p.P129_K130insFs
c.387_388insC
Surrounding Variants
1 paper
NM_173477.5
p.K130fs
c.388_389fs
6 papers
NM_173477.5
p.K130E
c.388A>G
1 paper
NM_173477.5
p.N128S
c.383A>G
4 papers
NM_173477.5
p.V132fs
c.394_395fs
1 paper
NM_173477.5
p.L127delFs
c.381delG
9 papers
NM_173477.5
p.L131_V132insFs
c.393_394insG
2 papers
NM_173477.5
p.V132A
c.395T>C
1 paper
NM_173477.5
p.G133insFs
c.397dupG
1 paper
NM_173477.5
p.K136Q
c.406A>C
1 paper
NM_173477.5
p.K136N
c.408G>T
1 paper
NM_173477.5
p.K136N
c.408G>C
1 paper
NM_173477.5
p.D137N
c.409G>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."