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.F66del1

c.196_197delTTC

Surrounding Variants

1 paper

NM_018361.5

p.M61I

c.183G>A

1 paper

NM_018361.5

p.M61I

c.183G>C

1 paper

NM_018361.5

p.M61I

c.183G>T

1 paper

NM_018361.5

p.L54L

c.162C>G

1 paper

NM_018361.5

p.D52N

c.154G>A

1 paper

NM_018361.5

p.Q73_I74Splc

c.219+1G>A

1 paper

NM_018361.5

p.V34F

c.100G>T

1 paper

NM_018361.5

p.T9M

c.26C>T