Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT1
Variant:p.D109E

AGPAT1

31 papers

RefSeq Summary

This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. ...

Pfam Domains

Acyltransferaseaa 83–211UCSCAcyltransferase

Gene Aliases

HGNC Name

1-acylglycerol-3-phosphate O-acyltransferase 1

HGNC Alias Symbols

LPAAT-alpha; LPLAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006411.4
p.D109E
c.327T>A
Surrounding Variants
1 paper
NM_006411.4
p.D109E
c.327T>G
1 paper
NM_006411.4
p.G112Splc
c.334+1G>A
1 paper
NM_006411.4
p.H90Q
c.270C>G
1 paper
NM_006411.4
p.H90Q
c.270C>A
1 paper
NM_006411.4
p.G112Splc
c.335-1G>C
1 paper
NM_006411.4
p.G112delFs
c.336delC
1 paper
NM_006411.4
p.R61H
c.182G>A
3 papers
NM_006411.4
p.G136R
c.406G>C
3 papers
NM_006411.4
p.G136R
c.406G>A
1 paper
NM_006411.4
p.F146Y
c.437T>A
1 paper
NM_006411.4
p.G153V
c.458G>T
1 paper
NM_006411.4
p.L167insFs
c.500_501insTT
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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."