Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.L288delFs

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.L288delFs
c.862delG
Surrounding Variants
1 paper
NM_173477.5
p.A286_A289delFs
c.857_866del10
1 paper
NM_173477.5
p.A286fs
c.856_857fs
1 paper
NM_173477.5
p.A286S
c.856G>T
1 paper
NM_173477.5
p.R285insFs
c.854dupG
3 papers
NM_173477.5
p.S278_S284delFs
c.832_851del20
1 paper
NM_173477.5
p.S282G
c.844A>G
1 paper
NM_173477.5
p.E280V
c.839A>T
1 paper
NM_173477.5
p.D279E
c.837C>G
1 paper
NM_173477.5
p.D279E
c.837C>A
1 paper
NM_173477.5
p.S278L
c.833C>T
4 papers
NM_173477.5
p.S278fs
c.832_833fs
1 paper
NM_173477.5
p.T299_D300insFs
c.897_898ins7
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