Varaico: Literature-Extracted Genetic Variants

Gene:SNTG2
Variant:p.N371fs

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.N371fs
c.1111_1112fs
Surrounding Variants
1 paper
NM_018968.4
p.D380H
c.1138G>C
1 paper
NM_018968.4
p.D380fs
c.1138_1139fs
1 paper
NM_018968.4
p.W361C
c.1083G>C
1 paper
NM_018968.4
p.W361C
c.1083G>T
1 paper
NM_018968.4
p.Q384K
c.1150C>A
4 papers
NM_018968.4
p.I391V
c.1171A>G
2 papers
NM_018968.4
p.V392M
c.1174G>A
1 paper
NM_018968.4
p.A393V
c.1178C>T
1 paper
NM_018968.4
p.E408K
c.1222G>A
1 paper
NM_018968.4
p.R418R
c.1252A>C
1 paper
NM_018968.4
p.G428_S429Splc
c.1284+2T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."