Varaico: Literature-Extracted Genetic Variants

Gene:GPAT2

GPAT2

35 papers

Pfam Domains

GPAT_Caa 356–762UCSCGlycerol-3-phosphate acyltransferase C-terminal region

Gene Aliases

HGNC Name

glycerol-3-phosphate acyltransferase 2, mitochondrial

HGNC Alias Symbol

CT123

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
4 papers
NM_001321527.2
p.R698C
c.2092C>T
3 papers
NM_001321527.2
p.R627W
c.1879C>T
3 papers
NM_001321527.2
p.A636V
c.1907C>T
2 papers
NM_001321527.2
p.R49H
c.146G>A
2 papers
NM_001321527.2
p.H377R
c.1130A>G
2 papers
NM_001321527.2
p.T463M
c.1388C>T
2 papers
NM_001321527.2
p.R652*
c.1954C>T
1 paper
NM_001321527.2
p.R14K
c.41G>A
1 paper
NM_001321527.2
p.P38S
c.112C>T
1 paper
NM_001321527.2
p.R84Splc
c.252-2A>G
1 paper
NM_001321527.2
p.G126insFs
c.377_378insT
1 paper
NM_001321527.2
p.G131V
c.392G>T
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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."