Varaico: Literature-Extracted Genetic Variants

GAPDHS

34 papers

RefSeq Summary

This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this ...

Pfam Domains

Gp_dh_Naa 76–176UCSCGlyceraldehyde 3-phosphate dehydrogenase, NAD binding domain

Gp_dh_Caa 229–386UCSCGlyceraldehyde 3-phosphate dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

HGNC Previous Symbol

GAPDS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

4 papers

NM_014364.5

p.E96Q

c.286G>C

4 papers

NM_014364.5

p.E244Q

c.730G>C

4 papers

NM_014364.5

p.D311N

c.931G>A

2 papers

NM_014364.5

p.G82Splc

c.245+7C>T

2 papers

NM_014364.5

p.P111A

c.331C>G

2 papers

NM_014364.5

p.P157A

c.469C>G

2 papers

NM_014364.5

p.P164A

c.490C>G

2 papers

NM_014364.5

p.P197A

c.589C>G

2 papers

NM_014364.5

p.P213A

c.637C>G

2 papers

NM_014364.5

p.S220Splc

c.660-22G>A

2 papers

NM_014364.5

p.P326A

c.976C>G

1 paper

NM_014364.5

p.S2L

c.5C>T