Varaico: Literature-Extracted Genetic Variants

Gene:SNTG2
Variant:p.K163*

SNTG2

83 papers

RefSeq Summary

This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carb...

Pfam Domains

PDZaa 73–153UCSCPDZ domain
Syntrophin_4thaa 425–522UCSCSyntrophin C-terminal PH domain

Gene Aliases

HGNC Name

syntrophin gamma 2

HGNC Alias Symbols

SYN5; G2SYN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018968.4
p.K163*
c.487A>T
Surrounding Variants
1 paper
NM_018968.4
p.G167A
c.500G>C
3 papers
NM_018968.4
p.A158V
c.473C>T
3 papers
NM_018968.4
p.V152I
c.454G>A
5 papers
NM_018968.4
p.S168Y
c.503C>A
1 paper
NM_018968.4
p.A179T
c.535G>A
1 paper
NM_018968.4
p.A179S
c.535G>T
1 paper
NM_018968.4
p.L183F
c.547C>T
1 paper
NM_018968.4
p.G187C
c.559G>T
1 paper
NM_018968.4
p.N191N
c.573C>T
1 paper
NM_018968.4
p.G192R
c.574G>A
1 paper
NM_018968.4
p.G192R
c.574G>C
1 paper
NM_018968.4
p.V137_V138Splc
c.412-7711C>T
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