Varaico: Literature-Extracted Genetic Variants

Gene:GPAT2
Variant:p.R444K

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
Selected Variant
1 paper
NM_001321527.2
p.R444K
c.1331G>A
Surrounding Variants
1 paper
NM_001321527.2
p.L435L
c.1305C>A
1 paper
NM_001321527.2
p.A434fs
c.1300_1301fs
1 paper
NM_001321527.2
p.G411A
c.1232G>C
1 paper
NM_001321527.2
p.E386fs
c.1156_1157fs
1 paper
NM_001321527.2
p.Q385_E386Splc
c.1156-1G>A
1 paper
NM_001321527.2
p.S457N
c.1370G>A
2 papers
NM_001321527.2
p.H377R
c.1130A>G
2 papers
NM_001321527.2
p.T463M
c.1388C>T
1 paper
NM_001321527.2
p.L471H
c.1412T>A
1 paper
NM_001321527.2
p.A347T
c.1039G>A
1 paper
NM_001321527.2
p.L604P
c.1811T>C
1 paper
NM_001321527.2
p.L610P
c.1829T>C
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