Varaico: Literature-Extracted Genetic Variants

Gene:LPCAT1
Variant:p.H477L

LPCAT1

96 papers

RefSeq Summary

This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysop...

Pfam Domains

Acyltransferaseaa 114–237UCSCAcyltransferase
EF-hand_8aa 432–483UCSCEF-hand domain pair

Gene Aliases

HGNC Name

lysophosphatidylcholine acyltransferase 1

HGNC Previous Symbol

AYTL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024830.5
p.H477L
c.1430A>T
Surrounding Variants
2 papers
NM_024830.5
p.A480G
c.1439C>G
1 paper
NM_024830.5
p.A474T
c.1420G>A
1 paper
NM_024830.5
p.E481K
c.1441G>A
1 paper
NM_024830.5
p.A485T
c.1453G>A
1 paper
NM_024830.5
p.F498F
c.1494C>T
1 paper
NM_024830.5
p.G512A
c.1535G>C
2 papers
NM_024830.5
p.S522L
c.1565C>T
1 paper
NM_024830.5
p.V529I
c.1585G>A
1 paper
NM_024830.5
p.A474T
c.1420G>A
2 papers
NM_024830.5
p.F473F
c.1419C>T
1 paper
NM_024830.5
p.T472I
c.1415C>T
1 paper
NM_024830.5
p.R461Q
c.1382G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."