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.G58R

c.172G>A

Surrounding Variants

1 paper

NM_017711.4

p.G58R

c.172G>C

1 paper

NM_017711.4

p.I57V

c.169A>G

1 paper

NM_017711.4

p.F48C

c.143T>G

1 paper

NM_017711.4

p.T47N

c.140C>A

1 paper

NM_017711.4

p.L44V

c.130C>G

1 paper

NM_017711.4

p.K35_C36Splc

c.105+52T>G

2 papers

NM_017711.4

p.K35M

c.104A>T

1 paper

NM_017711.4

p.S34N

c.101G>A

1 paper

NM_017711.4

p.Q32H

c.96A>T

1 paper

NM_017711.4

p.R75S

c.223C>A

1 paper

NM_017711.4

p.L101_V102Splc

c.303+3G>T

2 papers

NM_017711.4

p.A104T

c.310G>A