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

10 papers

NM_005276.4

p.G299R

c.895G>C

Surrounding Variants

10 papers

NM_005276.4

p.G299R

c.895G>A

1 paper

NM_005276.4

p.P300L

c.899C>T

1 paper

NM_005276.4

p.P300P

c.900C>T

6 papers

NM_005276.4

p.E301*

c.901G>T

1 paper

NM_005276.4

p.T302R

c.905C>G

3 papers

NM_005276.4

p.Q295*

c.883C>T

1 paper

NM_005276.4

p.R304W

c.910C>T

1 paper

NM_005276.4

p.L306P

c.917T>C

1 paper

NM_001257199.2

p.E267K

c.799G>A

1 paper

NM_005276.4

p.E288K

c.862G>A

3 papers

NM_005276.4

p.Q311*

c.931C>T

1 paper

NM_005276.4

p.H312_G314delFs

c.936_940del5