Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.G452E

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
4 papers
NM_012268.4
p.G452E
c.1355G>A
Surrounding Variants
1 paper
NM_012268.4
p.G454S
c.1360G>A
1 paper
NM_012268.4
p.Q450H
c.1350G>C
1 paper
NM_012268.4
p.Q450H
c.1350G>T
1 paper
NM_012268.4
p.G454C
c.1360G>T
2 papers
NM_012268.4
p.Q450L
c.1349A>T
1 paper
NM_012268.4
p.G455S
c.1363G>A
3 papers
NM_012268.4
p.A442A
c.1326G>A
2 papers
NM_012268.4
p.A442V
c.1325C>T
1 paper
NM_012268.4
p.Y437F
c.1310A>T
1 paper
NM_012268.4
p.D469Y
c.1405G>T
2 papers
NM_012268.4
p.G435V
c.1304G>T
1 paper
NM_012268.4
p.G429Splc
c.1286-2A>G
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