Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.S100G

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
1 paper
NM_006412.4
p.S100G
c.298A>G
Surrounding Variants
1 paper
NM_006412.4
p.Q99H
c.297G>T
1 paper
NM_006412.4
p.Q99H
c.297G>C
6 papers
NM_006412.4
p.S100N
c.299G>A
1 paper
NM_006412.4
p.M104V
c.310A>G
3 papers
NM_006412.4
p.G106Splc
c.316+1G>T
3 papers
NM_006412.4
p.R90delFs
c.268delG
2 papers
NM_006412.4
p.R90fs
c.268_269fs
7 papers
NM_006412.4
p.E88G
c.263A>G
1 paper
NM_006412.4
p.Q87fs
c.259_260fs
3 papers
NM_006412.4
p.Q87*
c.259C>T
1 paper
NM_006412.4
p.L86_Q87insFs
c.258_259ins4
1 paper
NM_006412.4
p.R85_L86insFs
c.254_258dup5
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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."