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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LPGAT1

Variant:p.K200E

LPGAT1

21 papers

RefSeq Summary

This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid th...

Pfam Domains

Acyltransferaseaa 83–229UCSCAcyltransferase

Acyltransf_Caa 270–345UCSCAcyltransferase C-terminus

Gene Aliases

HGNC Name

lysophosphatidylglycerol acyltransferase 1

HGNC Previous Symbol

FAM34A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

6 papers

chr1:211783358 T>C

NM_014873.3

p.K200E

c.598A>G

Acyltransferase

Exome: 0.0% (AC=421, hom=0)Genome: 0.0% (AC=37, hom=0)105 overlapping SVs

Surrounding Variants

1 paper

chr1:211783382 G>A

NM_014873.3

p.R192*

c.574C>T

Acyltransferase

exact variant not in gnomAD105 overlapping SVs

1 paper

chr1:211783399 C>T

NM_014873.3

p.G186D

c.557G>A

Acyltransferase

exact variant not in gnomAD105 overlapping SVs

1 paper

chr1:211783309 C>T

NM_014873.3

p.G216E

c.647G>A

Acyltransferase

exact variant not in gnomAD105 overlapping SVs

1 paper

chr1:211783279 A>G

NM_014873.3

p.V226A

c.677T>C

Acyltransferase

Exome: 0.0% (AC=3, hom=0)Genome: n/a105 overlapping SVs

1 paper

chr1:211783446 A>AT

NM_014873.3

p.N170_Y171insFs

c.510_511insA

Acyltransferase

exact variant not in gnomAD105 overlapping SVs

1 paper

chr1:211783447 T>TAAAGGGGAAGTTCAGCCCCCTTTACTCCCTTTCTCCCCCTCTTTG

NM_014873.3

p.N170ins15

c.509_510ins45

Acyltransferase

exact variant not in gnomAD105 overlapping SVs

1 paper

chr1:211778921 T>A

NM_014873.3

p.Y284F

c.851A>T

Acyltransf_C

exact variant not in gnomAD105 overlapping SVs

1 paper

chr1:211793154 T>C

NM_014873.3

p.K92R

c.275A>G

Acyltransferase

exact variant not in gnomAD107 overlapping SVs

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