Varaico: Literature-Extracted Genetic Variants

LPCAT2

49 papers

RefSeq Summary

This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-s...

Pfam Domains

Acyltransferaseaa 125–249UCSCAcyltransferase

EF-hand_7aa 393–455UCSCEF-hand domain pair

EF-hand_7aa 429–491UCSCEF-hand domain pair

Gene Aliases

HGNC Name

lysophosphatidylcholine acyltransferase 2

HGNC Previous Symbol

AYTL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017839.5

p.T449M

c.1346C>T

Surrounding Variants

1 paper

NM_017839.5

p.F440Y

c.1319T>A

2 papers

NM_017839.5

p.L471R

c.1412T>G

1 paper

NM_017839.5

p.G478R

c.1432G>A

1 paper

NM_017839.5

p.G478R

c.1432G>C

1 paper

NM_017839.5

p.K438_L439Splc

c.1314+617G>A

1 paper

NM_017839.5

p.V529F

c.1585G>T

1 paper

NM_017839.5

p.K542N

c.1626A>C

1 paper

NM_017839.5

p.K542N

c.1626A>T