Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.L69fs

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.L69fs
c.205_206fs
Surrounding Variants
1 paper
NM_173477.5
p.L69insFs
c.205dupC
1 paper
NM_173477.5
p.L69P
c.206T>C
1 paper
NM_173477.5
p.L69_H70insFs
c.207_208insC
1 paper
NM_173477.5
p.H70fs
c.208_209fs
1 paper
NM_173477.5
p.G65A
c.194G>C
1 paper
NM_173477.5
p.D59_W64delFs
c.176_191del16
1 paper
NM_173477.5
p.S74P
c.220T>C
1 paper
NM_173477.5
p.I63I
c.189C>A
3 papers
NM_173477.5
p.D62_I63delFs
c.186_187delTG
2 papers
NM_173477.5
p.I63fs
c.187_188fs
3 papers
NM_173477.5
p.C61*
c.183T>A
1 paper
NM_173477.5
p.L78*
c.233T>A
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