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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LPCAT1

Variant:p.G17E

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:1523795 C>T

NM_024830.5

p.G17E

c.50G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

Surrounding Variants

1 paper

chr5:1523831 C>A

NM_024830.5

p.G5V

c.14G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr5:1523833 C>G

NM_024830.5

p.R4R

c.12G>C

Exome: 0.0% (AC=197, hom=0)Genome: 0.0% (AC=19, hom=0)9 overlapping SVs

1 paper

chr5:1523748 C>T

NM_024830.5

p.V33M

c.97G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr5:1523747 A>C

NM_024830.5

p.V33G

c.98T>G

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr5:1523736 G>A

NM_024830.5

p.R37C

c.109C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr5:1523709 C>T

NM_024830.5

p.Q45_V46Splc

c.135+1G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

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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."