Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.R242*

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
Selected Variant
1 paper
NM_012268.4
p.R242*
c.724C>T
Surrounding Variants
2 papers
NM_012268.4
p.R242Q
c.725G>A
4 papers
NM_012268.4
p.N236S
c.707A>G
1 paper
NM_012268.4
p.E249G
c.746A>G
1 paper
NM_012268.4
p.V232V
c.696G>T
70 papers
NM_012268.4
p.V232M
c.694G>A
1 paper
NM_012268.4
p.G231G
c.693C>A
1 paper
NM_012268.4
p.L230Q
c.689T>A
1 paper
NM_012268.4
p.L254P
c.761T>C
1 paper
NM_012268.4
p.E229A
c.686A>C
4 papers
NM_012268.4
p.K228R
c.683A>G
1 paper
NM_012268.4
p.S260C
c.779C>G
1 paper
NM_012268.4
p.S260F
c.779C>T
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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."