Varaico: Literature-Extracted Genetic Variants

Gene:SNTG1
Variant:p.R202Q

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
3 papers
NM_018967.5
p.R202Q
c.605G>A
Surrounding Variants
1 paper
NM_018967.5
p.R202*
c.604C>T
1 paper
NM_018967.5
p.W203C
c.609G>C
1 paper
NM_018967.5
p.W203C
c.609G>T
1 paper
NM_018967.5
p.T193M
c.578C>T
2 papers
NM_018967.5
p.R215C
c.643C>T
1 paper
NM_018967.5
p.L186S
c.557T>C
1 paper
NM_018967.5
p.G222S
c.664G>A
1 paper
NM_018967.5
p.T183_D184Splc
c.550-5T>C
1 paper
NM_018967.5
p.T223R
c.668C>G
1 paper
NM_018967.5
p.D224Y
c.670G>T
1 paper
NM_018967.5
p.S226C
c.676A>T
1 paper
NM_018967.5
p.R227W
c.679C>T
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