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

2 papers

NM_018361.5

p.A106S

c.316G>T

Surrounding Variants

1 paper

NM_018361.5

p.L112Q

c.335T>A

1 paper

NM_018361.5

p.L112L

c.336A>G

1 paper

NM_018361.5

p.D98Y

c.292G>T

1 paper

NM_018361.5

p.V97Splc

c.290-11T>C

1 paper

NM_018361.5

p.V97Splc

c.290-36C>T

1 paper

NM_018361.5

p.F133L

c.397T>C

1 paper

NM_018361.5

p.F133L

c.399T>A

1 paper

NM_018361.5

p.F133L

c.399T>G

1 paper

NM_018361.5

p.Q135*

c.403C>T

1 paper

NM_018361.5

p.Q135_H136Splc

c.405+1G>A

1 paper

NM_018361.5

p.Q135_H136Splc

c.406-1G>C

2 papers

NM_018361.5

p.A162S

c.484G>T