Varaico: Literature-Extracted Genetic Variants

Gene:GPCPD1

GPCPD1

31 papers

Pfam Domains

CBM_20aa 3–101UCSCStarch binding domain
C2_GDE1aa 127–299UCSCGDE1-like C2 domain
GDPDaa 323–612UCSCGlycerophosphoryl diester phosphodiesterase family

Gene Aliases

HGNC Name

glycerophosphocholine phosphodiesterase 1

HGNC Alias Symbols

KIAA1434; GDE5; GDPD6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
1 paper
NM_019593.5
p.A21V
c.62C>T
1 paper
NM_019593.5
p.H93Y
c.277C>T
1 paper
NM_019593.5
p.Q130E
c.388C>G
1 paper
NM_019593.5
p.R136S
c.406C>A
1 paper
NM_019593.5
p.K151E
c.451A>G
1 paper
NM_019593.5
p.K151N
c.453A>T
1 paper
NM_019593.5
p.K153E
c.457A>G
1 paper
NM_019593.5
p.P176S
c.526C>T
1 paper
NM_019593.5
p.P176P
c.528C>G
1 paper
NM_019593.5
p.E195A
c.584A>C
1 paper
NM_019593.5
p.K267N
c.801G>T
1 paper
NM_019593.5
p.K267N
c.801G>C
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