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

1–12 of 40 variants

3 papers

NM_017839.5

p.M163I

c.489G>A

3 papers

NM_017839.5

p.M163I

c.489G>C

3 papers

NM_017839.5

p.M163I

c.489G>T

2 papers

NM_017839.5

p.A371V

c.1112C>T

2 papers

NM_017839.5

p.L471R

c.1412T>G

1 paper

NM_017839.5

p.E9Q

c.25G>C

1 paper

NM_017839.5

p.A17V

c.50C>T

1 paper

NM_017839.5

p.S34A

c.100T>G

1 paper

NM_017839.5

p.A80V

c.239C>T

1 paper

NM_017839.5

p.A85V

c.254C>T

1 paper

NM_017839.5

p.V89L

c.265G>C

1 paper

NM_017839.5

p.V89L

c.265G>T