Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.R68*

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
19 papers
NM_006412.4
p.R68*
c.202C>T
Surrounding Variants
1 paper
NM_006412.4
p.R68G
c.202C>G
4 papers
NM_006412.4
p.V67M
c.199G>A
5 papers
NM_006412.4
p.W65*
c.195G>A
5 papers
NM_006412.4
p.W65*
c.194G>A
3 papers
NM_006412.4
p.Y72*
c.216C>G
3 papers
NM_006412.4
p.Y72*
c.216C>A
1 paper
NM_006412.4
p.Y74_G75insTT
c.220_224ins6
1 paper
NM_006412.4
p.Y74Y
c.222C>T
2 papers
NM_006412.4
p.S61Splc
c.183-2A>G
1 paper
NM_006412.4
p.G75_L76delFs
c.224_227del4
4 papers
NM_006412.4
p.R77C
c.229C>T
1 paper
NM_006412.4
p.Q87fs
c.259_260fs
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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."