Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.P112L

AGPAT2

156 papers

RefSeq Summary

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatid...

Pfam Domains

Acyltransferaseaa 77–205UCSCAcyltransferase

Gene Aliases

HGNC Name

1-acylglycerol-3-phosphate O-acyltransferase 2

HGNC Alias Symbols

LPAAT-beta; LPLAT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_006412.4
p.P112L
c.335C>T
Surrounding Variants
6 papers
NM_006412.4
p.P112delFs
c.335delG
6 papers
NM_006412.4
p.P112fs
c.334_335fs
1 paper
NM_006412.4
p.E113*
c.337G>T
1 paper
NM_006412.4
p.E109K
c.325G>A
1 paper
NM_006412.4
p.G106_L107delFs
c.317_321del5
1 paper
NM_006412.4
p.G106R
c.316G>C
2 papers
NM_006412.4
p.K120R
c.359A>G
1 paper
NM_006412.4
p.G106Splc
c.317-7C>T
1 paper
NM_006412.4
p.R121W
c.361C>T
2 papers
NM_006412.4
p.L123fs
c.367_368fs
2 papers
NM_006412.4
p.L124fs
c.370_371fs
3 papers
NM_006412.4
p.L123_L124delFs
c.369_372del4
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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."