Varaico: Literature-Extracted Genetic Variants

Gene:PLD2

PLD2

146 papers

RefSeq Summary

The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphospha...

Pfam Domains

PXaa 90–192UCSCPX domain
PLDcaa 437–464UCSCPhospholipase D Active site motif
PLDc_2aa 626–802UCSCPLD-like domain

Gene Aliases

HGNC Name

phospholipase D2

HGNC Alias Name

choline phosphatase 2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 164 variants
16 papers
NM_002663.5
p.K758R
c.2273A>G
11 papers
NM_002663.5
p.R172C
c.514C>T
11 papers
NM_002663.5
p.T577I
c.1730C>T
4 papers
NM_002663.5
p.E632G
c.1895A>G
4 papers
NM_002663.5
p.G821S
c.2461G>A
3 papers
NM_002663.5
p.Y179F
c.536A>T
3 papers
NM_002663.5
p.D659E
c.1977T>A
3 papers
NM_002663.5
p.D659E
c.1977T>G
2 papers
NM_002663.5
p.T11A
c.31A>G
2 papers
NM_002663.5
p.S146P
c.436T>C
2 papers
NM_002663.5
p.Y165F
c.494A>T
2 papers
NM_002663.5
p.N171S
c.512A>G
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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."