Varaico: Literature-Extracted Genetic Variants

Gene:LPCAT1
Variant:p.R183fs

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.R183fs
c.547_548fs
Surrounding Variants
1 paper
NM_024830.5
p.R183insFs
c.548_549insGG
1 paper
NM_024830.5
p.S182A
c.544T>G
1 paper
NM_024830.5
p.E189*
c.565G>T
1 paper
NM_024830.5
p.S178A
c.532T>G
1 paper
NM_024830.5
p.I190I
c.570C>A
1 paper
NM_024830.5
p.K191R
c.572A>G
2 papers
NM_024830.5
p.V175M
c.523G>A
1 paper
NM_024830.5
p.R193W
c.577C>T
1 paper
NM_024830.5
p.V173L
c.517G>T
1 paper
NM_024830.5
p.V173L
c.517G>C
1 paper
NM_024830.5
p.A194V
c.581C>T
1 paper
NM_024830.5
p.R171P
c.512G>C
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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."