Varaico: Literature-Extracted Genetic Variants

Gene:LPCAT1
Variant:p.P161L

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.P161L
c.482C>T
Surrounding Variants
1 paper
NM_024830.5
p.R158S
c.474A>T
1 paper
NM_024830.5
p.T165Splc
c.493+1G>A
1 paper
NM_024830.5
p.A141insFs
c.421_422insG
1 paper
NM_024830.5
p.D140_A141insFs
c.420_421insG
1 paper
NM_024830.5
p.D140A
c.419A>C
1 paper
NM_024830.5
p.A133A
c.399G>A
1 paper
NM_024830.5
p.A133V
c.398C>T
1 paper
NM_024830.5
p.T125A
c.373A>G
2 papers
NM_024830.5
p.V117M
c.349G>A
1 paper
NM_024830.5
p.R114W
c.340C>T
1 paper
NM_024830.5
p.A101D
c.302C>A
1 paper
NM_024830.5
p.T165Splc
c.494-1G>C
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