Varaico: Literature-Extracted Genetic Variants

Gene:LPCAT1
Variant:p.Q202_I203Splc

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
2 papers
NM_024830.5
p.Q202_I203Splc
c.607-2A>G
Surrounding Variants
1 paper
NM_024830.5
p.C216*
c.648C>A
1 paper
NM_024830.5
p.T219T
c.657C>A
1 paper
NM_024830.5
p.K221R
c.662A>G
1 paper
NM_024830.5
p.K199R
c.596A>G
1 paper
NM_024830.5
p.N197N
c.591C>T
1 paper
NM_024830.5
p.A194V
c.581C>T
1 paper
NM_024830.5
p.R193W
c.577C>T
1 paper
NM_024830.5
p.K191R
c.572A>G
1 paper
NM_024830.5
p.I190I
c.570C>A
1 paper
NM_024830.5
p.E189*
c.565G>T
1 paper
NM_024830.5
p.R183insFs
c.548_549insGG
1 paper
NM_024830.5
p.R183fs
c.547_548fs
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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."