Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.R375Q

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
2 papers
NM_012268.4
p.R375Q
c.1124G>A
Surrounding Variants
1 paper
NM_012268.4
p.E371D
c.1113G>C
1 paper
NM_012268.4
p.E371D
c.1113G>T
2 papers
NM_012268.4
p.S380A
c.1138T>G
1 paper
NM_012268.4
p.A382G
c.1145C>G
1 paper
NM_012268.4
p.R385H
c.1154G>A
1 paper
NM_012268.4
p.I364I
c.1092C>T
1 paper
NM_012268.4
p.D386V
c.1157A>T
1 paper
NM_012268.4
p.I364V
c.1090A>G
1 paper
NM_012268.4
p.H388D
c.1162C>G
1 paper
NM_012268.4
p.R361H
c.1082G>A
1 paper
NM_012268.4
p.R361C
c.1081C>T
1 paper
NM_012268.4
p.H390D
c.1168C>G
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