Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.S243*

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
7 papers
NM_173477.5
p.S243*
c.728C>A
Surrounding Variants
1 paper
NM_173477.5
p.S243L
c.728C>T
1 paper
NM_173477.5
p.D236_G246del11
c.706_737del33
1 paper
NM_173477.5
p.K239Q
c.715A>C
3 papers
NM_001282489.3
p.Q145*
c.433C>T
NM_173477.5
p.Q248*
c.742C>T
1 paper
NM_173477.5
p.R238_K239insC
c.712_716ins3
1 paper
NM_173477.5
p.E235E
c.705G>A
1 paper
NM_173477.5
p.R257H
c.770G>A
1 paper
NM_173477.5
p.G226G
c.678C>T
1 paper
NM_173477.5
p.G226G
c.678C>A
2 papers
NM_173477.5
p.T260_Y261insFs
c.780_781ins4
1 paper
NM_173477.5
p.Q225fs
c.673_674fs
2 papers
NM_173477.5
p.Y261fs
c.781_782fs
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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."