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.E193A

c.578A>C

Surrounding Variants

1 paper

NM_005276.4

p.T196S

c.586A>T

2 papers

NM_005276.4

p.V197A

c.590T>C

1 paper

NM_005276.4

p.A202V

c.605C>T

1 paper

NM_005276.4

p.T183I

c.548C>T

1 paper

NM_005276.4

p.K204K

c.612G>A

1 paper

NM_005276.4

p.E179E

c.537G>A

8 papers

NM_005276.4

p.Q175*

c.523C>T

NM_001257199.2

p.Q152*

c.454C>T

1 paper

NM_005276.4

p.G174G

c.522A>T

1 paper

NM_005276.4

p.G174R

c.520G>A

1 paper

NM_005276.4

p.G174R

c.520G>C

1 paper

NM_005276.4

p.Q173K

c.517C>A

1 paper

NM_005276.4

p.A172P

c.514G>C