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

Selected Variant

1 paper

NM_014364.5

p.A304A

c.912G>A

Surrounding Variants

4 papers

NM_014364.5

p.D311N

c.931G>A

2 papers

NM_014364.5

p.P326A

c.976C>G

1 paper

NM_014364.5

p.Y327*

c.981C>G

1 paper

NM_014364.5

p.G344D

c.1031G>A

1 paper

NM_014364.5

p.Y348*

c.1044C>A

1 paper

NM_014364.5

p.Y348*

c.1044C>G

1 paper

NM_014364.5

p.T290I

c.869C>T

1 paper

NM_014364.5

p.T254M

c.761C>T

4 papers

NM_014364.5

p.E244Q

c.730G>C

1 paper

NM_014364.5

p.T225S

c.673A>T

2 papers

NM_014364.5

p.S220Splc

c.660-22G>A

2 papers

NM_014364.5

p.P213A

c.637C>G