Varaico: Literature-Extracted Genetic Variants

Gene:SNTG2
Variant:p.T25M

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
2 papers
NM_018968.4
p.T25M
c.74C>T
Surrounding Variants
1 paper
NM_018968.4
p.T28I
c.83C>T
1 paper
NM_018968.4
p.E35insFs
c.104_105insA
1 paper
NM_018968.4
p.R44W
c.130C>T
1 paper
NM_018968.4
p.E50K
c.148G>A
1 paper
NM_018968.4
p.E50A
c.149A>C
1 paper
NM_018968.4
p.I54M
c.162T>G
1 paper
NM_018968.4
p.G63R
c.187G>C
1 paper
NM_018968.4
p.G68G
c.204C>A
1 paper
NM_018968.4
p.N70_R71Splc
c.210+1409C>A
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