Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.L48L

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.L48L
c.142C>T
Surrounding Variants
14 papers
NM_173477.5
p.L48P
c.143T>C
1 paper
NM_173477.5
p.I51F
c.151A>T
2 papers
NM_173477.5
p.H42L
c.125A>T
7 papers
NM_173477.5
p.G55Splc
c.164+5G>A
2 papers
NM_173477.5
p.A39T
c.115G>A
8 papers
NM_173477.5
p.W38*
c.114G>A
9 papers
NM_173477.5
p.W38*
c.113G>A
2 papers
NM_173477.5
p.P28insFs
c.84dupC
3 papers
NM_173477.5
p.D29fs
c.85_86fs
4 papers
NM_173477.5
p.P28L
c.83C>T
1 paper
NM_173477.5
p.A27_P28delins
c.80_83delinsTGCTGTAAACTGTAACTGTAAA
1 paper
NM_173477.5
p.A27T
c.79G>A
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