Varaico: Literature-Extracted Genetic Variants

Gene:PLPP1
Variant:p.A188A

PLPP1

21 papers

RefSeq Summary

The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phos...

Pfam Domains

PAP2aa 101–251UCSCPAP2 superfamily

Gene Aliases

HGNC Name

phospholipid phosphatase 1

HGNC Previous Symbol

PPAP2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003711.4
p.A188A
c.564C>T
Surrounding Variants
1 paper
NM_003711.4
p.D193A
c.578A>C
1 paper
NM_003711.4
p.V209I
c.625G>A
1 paper
NM_003711.4
p.S219A
c.655T>G
2 papers
NM_003711.4
p.H223L
c.668A>T
1 paper
NM_003711.4
p.I233T
c.698T>C
1 paper
NM_003711.4
p.V246A
c.737T>C
1 paper
NM_003711.4
p.S247L
c.740C>T
1 paper
NM_003711.4
p.F256L
c.766T>C
1 paper
NM_003711.4
p.F256L
c.768T>G
1 paper
NM_003711.4
p.F256L
c.768T>A
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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."