Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.L16V

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.L16V
c.46C>G
Surrounding Variants
1 paper
NM_173477.5
p.L16P
c.47T>C
4 papers
NM_173477.5
p.K18*
c.52A>T
2 papers
NM_173477.5
p.L17del1
c.49_50delGAG
1 paper
NM_173477.5
p.G12insFs
c.35_36insG
1 paper
NM_173477.5
p.G12fs
c.34_35fs
3 papers
NM_173477.5
p.G12delFs
c.35delC
1 paper
NM_173477.5
p.K18delFs
c.54delC
1 paper
NM_173477.5
p.G12C
c.34G>T
1 paper
NM_173477.5
p.R10W
c.28C>T
1 paper
NM_173477.5
p.A9P
c.25G>C
2 papers
NM_173477.5
p.A8P
c.22G>C
1 paper
NM_173477.5
p.L25L
c.73C>T
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