Varaico: Literature-Extracted Genetic Variants

Gene:GPAT4
Variant:p.C244S

GPAT4

34 papers

RefSeq Summary

Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynth...

Pfam Domains

Acyltransferaseaa 228–351UCSCAcyltransferase

Gene Aliases

HGNC Name

glycerol-3-phosphate acyltransferase 4

HGNC Previous Symbol

AGPAT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178819.4
p.C244S
c.730T>A
Surrounding Variants
1 paper
NM_178819.4
p.C244S
c.731G>C
1 paper
NM_178819.4
p.A246G
c.737C>G
1 paper
NM_178819.4
p.N236delFs
c.707delA
1 paper
NM_178819.4
p.V288F
c.862G>T
1 paper
NM_178819.4
p.R298L
c.893G>T
1 paper
NM_178819.4
p.R171Q
c.512G>A
1 paper
NM_178819.4
p.W164*
c.492G>A
1 paper
NM_178819.4
p.W164*
c.491G>A
1 paper
NM_178819.4
p.L160L
c.480C>T
1 paper
NM_178819.4
p.N150S
c.449A>G
1 paper
NM_178819.4
p.D105E
c.315C>A
1 paper
NM_178819.4
p.D105E
c.315C>G
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