Varaico: Literature-Extracted Genetic Variants

Gene:SNTG1
Variant:p.F145L

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
2 papers
NM_018967.5
p.F145L
c.433T>C
Surrounding Variants
2 papers
NM_018967.5
p.F145L
c.435C>A
2 papers
NM_018967.5
p.F145L
c.435C>G
1 paper
NM_018967.5
p.R141T
c.422G>C
1 paper
NM_018967.5
p.A128V
c.383C>T
1 paper
NM_018967.5
p.A128S
c.382G>T
1 paper
NM_018967.5
p.V124F
c.370G>T
1 paper
NM_018967.5
p.Q123K
c.367C>A
1 paper
NM_018967.5
p.Q123_L125del0
c.368_373del6
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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."