Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.M1_K2insFs

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.M1_K2insFs
c.3_4insG
Surrounding Variants
12 papers
NM_012268.4
p.M6R
c.17T>G
1 paper
NM_012268.4
p.E9_L10Splc
c.27+1G>A
1 paper
NM_012268.4
p.V12L
c.34G>T
1 paper
NM_012268.4
p.P17P
c.51C>T
1 paper
NM_012268.4
p.M23L
c.67A>T
1 paper
NM_012268.4
p.I26T
c.77T>C
1 paper
NM_012268.4
p.A32V
c.95C>T
1 paper
NM_012268.4
p.K34_K35Splc
c.103-9T>A
1 paper
NM_012268.4
p.W38L
c.113G>T
1 paper
NM_012268.4
p.L43F
c.127C>T
1 paper
NM_012268.4
p.F50I
c.148T>A
1 paper
NM_012268.4
p.F50F
c.150C>T
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