Varaico: Literature-Extracted Genetic Variants

Gene:LPCAT1

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
1–12 of 98 variants
6 papers
NM_024830.5
p.M427T
c.1280T>C
2 papers
NM_024830.5
p.V117M
c.349G>A
2 papers
NM_024830.5
p.P161L
c.482C>T
2 papers
NM_024830.5
p.V175M
c.523G>A
2 papers
NM_024830.5
p.Q202_I203Splc
c.607-2A>G
2 papers
NM_024830.5
p.F473F
c.1419C>T
2 papers
NM_024830.5
p.A480G
c.1439C>G
2 papers
NM_024830.5
p.S522L
c.1565C>T
1 paper
NM_024830.5
p.R4R
c.12G>C
1 paper
NM_024830.5
p.G5V
c.14G>T
1 paper
NM_024830.5
p.G17E
c.50G>A
1 paper
NM_024830.5
p.V33M
c.97G>A
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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."