Varaico: Literature-Extracted Genetic Variants

AGPAT5

42 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 73–232UCSCAcyltransferase

Acyltransf_Caa 249–328UCSCAcyltransferase C-terminus

Gene Aliases

HGNC Name

1-acylglycerol-3-phosphate O-acyltransferase 5

HGNC Alias Symbols

FLJ11210; LPAAT-e; LPAAT-epsilon; LPLAT5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018361.5

p.R278K

c.833G>A

Surrounding Variants

1 paper

NM_018361.5

p.R284H

c.851G>A

1 paper

NM_018361.5

p.E249Splc

c.746-2A>G

1 paper

NM_018361.5

p.K290Splc

c.870-4A>G

1 paper

NM_018361.5

p.G309E

c.926G>A

1 paper

NM_018361.5

p.I318N

c.953T>A

1 paper

NM_018361.5

p.P323S

c.967C>T

1 paper

NM_018361.5

p.R342G

c.1024A>G

1 paper

NM_018361.5

p.L354I

c.1060C>A

1 paper

NM_018361.5

p.L358R

c.1073T>G

1 paper

NM_018361.5

p.T248T

c.744G>A

1 paper

NM_018361.5

p.R241Q

c.722G>A

1 paper

NM_018361.5

p.G239G

c.717G>C