Varaico: Literature-Extracted Genetic Variants

GDPD2

26 papers

RefSeq Summary

This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protei...

Pfam Domains

GDPDaa 229–404UCSCGlycerophosphoryl diester phosphodiesterase family

GDPD_2aa 444–473UCSCGlycerophosphoryl diester phosphodiesterase family

Gene Aliases

HGNC Name

glycerophosphodiester phosphodiesterase domain containing 2

HGNC Alias Symbols

OBDPF; FLJ20207; GDE3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017711.4

p.A169G

c.506C>G

Surrounding Variants

1 paper

NM_017711.4

p.P187S

c.559C>T

1 paper

NM_017711.4

p.R150H

c.449G>A

1 paper

NM_017711.4

p.A132V

c.395C>T

1 paper

NM_017711.4

p.M234L

c.700A>C

1 paper

NM_017711.4

p.M234L

c.700A>T

1 paper

NM_017711.4

p.T240P

c.718A>C

2 papers

NM_017711.4

p.A104T

c.310G>A

1 paper

NM_017711.4

p.L101_V102Splc

c.303+3G>T

1 paper

NM_017711.4

p.R75S

c.223C>A

1 paper

NM_017711.4

p.G58R

c.172G>A

1 paper

NM_017711.4

p.G58R

c.172G>C

1 paper

NM_017711.4

p.I57V

c.169A>G