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.E254K

c.760G>A

Surrounding Variants

1 paper

NM_005276.4

p.E254D

c.762G>C

1 paper

NM_005276.4

p.A250T

c.748G>A

1 paper

NM_001257199.2

p.D237N

c.709G>A

1 paper

NM_005276.4

p.G267R

c.799G>A

1 paper

NM_005276.4

p.G267R

c.799G>C

2 papers

NM_005276.4

p.R269W

c.805C>T

10 papers

NM_005276.4

p.R269Q

c.806G>A

1 paper

NM_005276.4

p.N270K

c.810C>A

1 paper

NM_005276.4

p.N270K

c.810C>G

1 paper

NM_001257199.2

p.R248W

c.742C>T

1 paper

NM_005276.4

p.A237T

c.709G>A

8 papers

NM_005276.4

p.A274T

c.820G>A