Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.G429Splc

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.G429Splc
c.1285+2T>A
Surrounding Variants
1 paper
NM_012268.4
p.G429Splc
c.1285+1G>A
1 paper
NM_012268.4
p.G429R
c.1285G>A
1 paper
NM_012268.4
p.G429R
c.1285G>C
6 papers
NM_012268.4
p.T426A
c.1276A>G
4 papers
NM_012268.4
p.R424C
c.1270C>T
2 papers
NM_012268.4
p.E423D
c.1269A>C
2 papers
NM_012268.4
p.E423D
c.1269A>T
3 papers
NM_012268.4
p.E423A
c.1268A>C
5 papers
NM_012268.4
p.K418R
c.1253A>G
1 paper
NM_012268.4
p.H416N
c.1246C>A
1 paper
NM_012268.4
p.A412V
c.1235C>T
3 papers
NM_012268.4
p.P410S
c.1228C>T
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