Varaico: Literature-Extracted Genetic Variants

AGPAT4

36 papers

RefSeq Summary

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo ph...

Pfam Domains

Acyltransferaseaa 76–232UCSCAcyltransferase

Acyltransf_Caa 242–314UCSCAcyltransferase C-terminus

Gene Aliases

HGNC Name

1-acylglycerol-3-phosphate O-acyltransferase 4

HGNC Alias Symbols

LPAAT-delta; dJ473J16.2; LPAAT4; LPLAT4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020133.3

p.C73delFs

c.218delC

Surrounding Variants

1 paper

NM_020133.3

p.C73fs

c.217_218fs

1 paper

NM_020133.3

p.T71M

c.212C>T

1 paper

NM_020133.3

p.A81T

c.241G>A

1 paper

NM_020133.3

p.K84N

c.252G>T

1 paper

NM_020133.3

p.K84N

c.252G>C

1 paper

NM_020133.3

p.A90V

c.269C>T

1 paper

NM_020133.3

p.L94L

c.282C>G

1 paper

NM_020133.3

p.K97R

c.290A>G

1 paper

NM_020133.3

p.C104*

c.312T>A

1 paper

NM_020133.3

p.R111H

c.332G>A

1 paper

NM_020133.3

p.G116_G117Splc

c.348+1G>A

1 paper

NM_020133.3

p.G116_G117Splc

c.348+5335G>A