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

9 papers

NM_005276.4

p.C214R

c.640T>C

Surrounding Variants

1 paper

NM_005276.4

p.C214F

c.641G>T

1 paper

NM_005276.4

p.D215N

c.643G>A

2 papers

NM_005276.4

p.G210R

c.628G>A

2 papers

NM_005276.4

p.G210R

c.628G>C

1 paper

NM_005276.4

p.V209G

c.626T>G

1 paper

NM_005276.4

p.A208A

c.624C>T

1 paper

NM_005276.4

p.V207L

c.619G>T

1 paper

NM_005276.4

p.N205D

c.613A>G

2 papers

NM_005276.4

p.T223I

c.668C>T

2 papers

NM_001257199.2

p.A202V

c.605C>T

NM_005276.4

p.A225V

c.674C>T

1 paper

NM_005276.4

p.A226T

c.676G>A

1 paper

NM_001257199.2

p.V204V

c.612G>A