Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.E276*

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.E276*
c.826G>T
Surrounding Variants
1 paper
NM_012268.4
p.M279V
c.835A>G
1 paper
NM_012268.4
p.R272C
c.814C>T
1 paper
NM_012268.4
p.E280*
c.838G>T
1 paper
NM_012268.4
p.T271A
c.811A>G
12 papers
NM_012268.4
p.N284S
c.851A>G
1 paper
NM_012268.4
p.R267W
c.799C>T
1 paper
NM_012268.4
p.S260C
c.779C>G
1 paper
NM_012268.4
p.S260F
c.779C>T
1 paper
NM_012268.4
p.A293V
c.878C>T
1 paper
NM_012268.4
p.A293_S294Splc
c.879+5G>A
1 paper
NM_012268.4
p.L254P
c.761T>C
1 paper
NM_012268.4
p.E249G
c.746A>G
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