Varaico: Literature-Extracted Genetic Variants

Gene:GDPD5
Variant:p.C110fs

GDPD5

45 papers

Pfam Domains

GDPDaa 233–373UCSCGlycerophosphoryl diester phosphodiesterase family
GDPD_2aa 450–477UCSCGlycerophosphoryl diester phosphodiesterase family

Gene Aliases

HGNC Name

glycerophosphodiester phosphodiesterase domain containing 5

HGNC Alias Symbols

PP1665; GDE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030792.8
p.C110fs
c.328_329fs
Surrounding Variants
1 paper
NM_030792.8
p.L109_C110delFs
c.327_328delAT
2 papers
NM_030792.8
p.V88I
c.262G>A
1 paper
NM_030792.8
p.P87L
c.260C>T
1 paper
NM_030792.8
p.R79C
c.235C>T
2 papers
NM_030792.8
p.T135M
c.404C>T
3 papers
NM_030792.8
p.T160T
c.480A>T
1 paper
NM_030792.8
p.R185H
c.554G>A
1 paper
NM_030792.8
p.R185R
c.555C>T
1 paper
NM_030792.8
p.S190F
c.569C>T
1 paper
NM_030792.8
p.A205T
c.613G>A
1 paper
NM_030792.8
p.L208L
c.624G>A
1 paper
NM_030792.8
p.P210L
c.629C>T
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