Varaico: Literature-Extracted Genetic Variants

Gene:PLD3

PLD3

170 papers

RefSeq Summary

This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and cont...

Pfam Domains

PLDc_3aa 223–403UCSCPLD-like domain

Gene Aliases

HGNC Name

phospholipase D family member 3

HGNC Alias Symbol

HU-K4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 140 variants
70 papers
NM_012268.4
p.V232M
c.694G>A
13 papers
NM_012268.4
p.L308P
c.923T>C
12 papers
NM_012268.4
p.M6R
c.17T>G
12 papers
NM_012268.4
p.N284S
c.851A>G
8 papers
NM_012268.4
p.P76A
c.226C>G
8 papers
NM_012268.4
p.I163M
c.489C>G
8 papers
NM_012268.4
p.C300Y
c.899G>A
6 papers
NM_012268.4
p.T426A
c.1276A>G
6 papers
NM_012268.4
p.R488C
c.1462C>T
5 papers
NM_012268.4
p.R356H
c.1067G>A
5 papers
NM_012268.4
p.K418R
c.1253A>G
4 papers
NM_012268.4
p.G63S
c.187G>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."