Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.G226G

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.G226G
c.678C>T
Surrounding Variants
1 paper
NM_173477.5
p.G226G
c.678C>A
1 paper
NM_173477.5
p.Q225fs
c.673_674fs
1 paper
NM_173477.5
p.Q225insFs
c.673dupC
1 paper
NM_173477.5
p.K219_L220del0
c.655_660del6
1 paper
NM_173477.5
p.L220R
c.659T>G
1 paper
NM_173477.5
p.E235E
c.705G>A
1 paper
NM_173477.5
p.R238_K239insC
c.712_716ins3
1 paper
NM_173477.5
p.K239Q
c.715A>C
1 paper
NM_173477.5
p.K213E
c.637A>G
1 paper
NM_173477.5
p.G212A
c.635G>C
1 paper
NM_173477.5
p.S243L
c.728C>T
7 papers
NM_173477.5
p.S243*
c.728C>A
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