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.Y167insFs

c.500_501insTT

Surrounding Variants

2 papers

NM_018361.5

p.P165_M166Splc

c.496-2A>G

1 paper

NM_018361.5

p.P179L

c.536C>T

3 papers

NM_018361.5

p.R195H

c.584G>A

1 paper

NM_018361.5

p.G196Splc

c.587-2A>C

1 paper

NM_018361.5

p.D223_A224insFs

c.669_670insA

1 paper

NM_018361.5

p.G239G

c.717G>C

1 paper

NM_018361.5

p.R241Q

c.722G>A

1 paper

NM_018361.5

p.T248T

c.744G>A

2 papers

NM_018361.5

p.A162S

c.484G>T

1 paper

NM_018361.5

p.Q135_H136Splc

c.406-1G>C