Varaico: Literature-Extracted Genetic Variants

Gene:GDPD5
Variant:p.R540C

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.R540C
c.1618C>T
Surrounding Variants
1 paper
NM_030792.8
p.G524D
c.1571G>A
1 paper
NM_030792.8
p.D566N
c.1696G>A
1 paper
NM_030792.8
p.L568P
c.1703T>C
1 paper
NM_030792.8
p.E601Q
c.1801G>C
1 paper
NM_030792.8
p.R605H
c.1814G>A
1 paper
NM_030792.8
p.F515L
c.1545C>G
1 paper
NM_030792.8
p.F515L
c.1545C>A
1 paper
NM_030792.8
p.F515L
c.1543T>C
1 paper
NM_030792.8
p.F508del1
c.1522_1523delGAA
1 paper
NM_030792.8
p.A503V
c.1508C>T
3 papers
NM_030792.8
p.A480T
c.1438G>A
1 paper
NM_030792.8
p.S463P
c.1387T>C
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