Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.D208A

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.D208A
c.623A>C
Surrounding Variants
1 paper
NM_012268.4
p.K203R
c.608A>G
1 paper
NM_012268.4
p.H201N
c.601C>A
1 paper
NM_012268.4
p.V199I
c.595G>A
1 paper
NM_012268.4
p.M219T
c.656T>C
2 papers
NM_012268.4
p.H197Y
c.589C>T
1 paper
NM_012268.4
p.W221*
c.662G>A
1 paper
NM_012268.4
p.W221*
c.663G>A
1 paper
NM_012268.4
p.R222C
c.664C>T
2 papers
NM_012268.4
p.R222H
c.665G>A
1 paper
NM_012268.4
p.R222L
c.665G>T
1 paper
NM_012268.4
p.R188C
c.562C>T
1 paper
NM_012268.4
p.A175G
c.524C>G
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