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.V241delFs

c.721delG

Surrounding Variants

1 paper

NM_017839.5

p.V241fs

c.721_722fs

1 paper

NM_017839.5

p.P245S

c.733C>T

1 paper

NM_017839.5

p.L248F

c.742C>T

1 paper

NM_017839.5

p.G221V

c.662G>T

1 paper

NM_017839.5

p.T260A

c.778A>G

1 paper

NM_017839.5

p.Y264D

c.790T>G

1 paper

NM_017839.5

p.R195insFs

c.585dupA

1 paper

NM_017839.5

p.S194fs

c.580_581fs

1 paper

NM_017839.5

p.P184L

c.551C>T

1 paper

NM_017839.5

p.R177Splc

c.530-1G>T

1 paper

NM_017839.5

p.R166Q

c.497G>A

3 papers

NM_017839.5

p.M163I

c.489G>A