Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.C300S

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.C300S
c.899G>C
Surrounding Variants
8 papers
NM_012268.4
p.C300Y
c.899G>A
1 paper
NM_012268.4
p.C300S
c.898T>A
1 paper
NM_012268.4
p.P297L
c.890C>T
1 paper
NM_012268.4
p.P296R
c.887C>G
1 paper
NM_012268.4
p.A295A
c.885G>A
1 paper
NM_012268.4
p.P306A
c.916C>G
1 paper
NM_012268.4
p.S294fs
c.880_881fs
13 papers
NM_012268.4
p.L308P
c.923T>C
1 paper
NM_012268.4
p.A293_S294Splc
c.880-8G>A
1 paper
NM_012268.4
p.L311V
c.931C>G
1 paper
NM_012268.4
p.N317S
c.950A>G
1 paper
NM_012268.4
p.Y323F
c.968A>T
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