Varaico: Literature-Extracted Genetic Variants

GPD1

115 papers

RefSeq Summary

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible c...

Pfam Domains

NAD_Gly3P_dh_Naa 5–174UCSCNAD-dependent glycerol-3-phosphate dehydrogenase N-terminus

NAD_Gly3P_dh_Caa 193–340UCSCNAD-dependent glycerol-3-phosphate dehydrogenase C-terminus

Gene Aliases

HGNC Name

glycerol-3-phosphate dehydrogenase 1

HGNC Previous Name

glycerol-3-phosphate dehydrogenase 1 (soluble)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005276.4

p.C102F

c.305G>T

Surrounding Variants

1 paper

NM_005276.4

p.C102S

c.305G>C

1 paper

NM_005276.4

p.C102S

c.304T>A

1 paper

NM_005276.4

p.D103N

c.307G>A

1 paper

NM_001257199.2

p.V73_F74Splc

c.220-2A>G

1 paper

NM_005276.4

p.A113V

c.338C>T

1 paper

NM_005276.4

p.I88F

c.262A>T

1 paper

NM_005276.4

p.D87H

c.259G>C

1 paper

NM_005276.4

p.A86V

c.257C>T

1 paper

NM_005276.4

p.I119fs

c.355_356fs

1 paper

NM_005276.4

p.V80A

c.239T>C

1 paper

NM_005276.4

p.V74L

c.220G>C

1 paper

NM_005276.4

p.V74L

c.220G>T