Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.Y190*

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
6 papers
NM_006412.4
p.Y190*
c.570C>G
Surrounding Variants
7 papers
NM_006412.4
p.Y190*
c.570C>A
1 paper
NM_006412.4
p.F189L
c.567C>A
6 papers
NM_006412.4
p.Q196fs
c.586_587fs
2 papers
NM_006412.4
p.Q196_V197Splc
c.588+1G>A
2 papers
NM_006412.4
p.D180delFs
c.538delC
1 paper
NM_006412.4
p.D180fs
c.538_539fs
1 paper
NM_006412.4
p.R175H
c.524G>A
1 paper
NM_006412.4
p.G173_T174insFs
c.519_520insA
12 papers
NM_006412.4
p.E172K
c.514G>A
2 papers
NM_006412.4
p.P171delFs
c.513delG
1 paper
NM_006412.4
p.E172fs
c.514_515fs
1 paper
NM_006412.4
p.I169F
c.505A>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."