Varaico: Literature-Extracted Genetic Variants

Gene:SNTG1
Variant:p.N262D

SNTG1

68 papers

RefSeq Summary

The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain ...

Pfam Domains

PDZaa 57–137UCSCPDZ domain
Syntrophin_4thaa 394–491UCSCSyntrophin C-terminal PH domain

Gene Aliases

HGNC Name

syntrophin gamma 1

HGNC Alias Symbols

SYN4; G1SYN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018967.5
p.N262D
c.784A>G
Surrounding Variants
1 paper
NM_018967.5
p.W255C
c.765G>C
1 paper
NM_018967.5
p.W255C
c.765G>T
2 papers
NM_018967.5
p.V253I
c.757G>A
1 paper
NM_018967.5
p.D251E
c.753C>A
1 paper
NM_018967.5
p.D251E
c.753C>G
1 paper
NM_018967.5
p.G242G
c.726G>A
1 paper
NM_018967.5
p.T241N
c.722C>A
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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."