Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.G221Splc

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
11 papers
NM_006412.4
p.G221Splc
c.662-2A>C
Surrounding Variants
1 paper
NM_006412.4
p.G221Splc
c.662-2A>G
1 paper
NM_006412.4
p.G221fs
c.661_662fs
3 papers
NM_006412.4
p.G221delFs
c.662delC
2 papers
NM_006412.4
p.V223fs
c.667_668fs
3 papers
NM_006412.4
p.V223_T224insFs
c.669_670insA
6 papers
NM_006412.4
p.Q226*
c.676C>T
1 paper
NM_006412.4
p.T224_V227del4
c.670_680del12
14 papers
NM_006412.4
p.L228P
c.683T>C
9 papers
NM_006412.4
p.E229*
c.685G>T
1 paper
NM_006412.4
p.E229K
c.685G>A
1 paper
NM_006412.4
p.T233insFs
c.697_698insC
1 paper
NM_006412.4
p.T233I
c.698C>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."