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.D368H

c.1102G>C

Surrounding Variants

1 paper

NM_014364.5

p.A369delFs

c.1105delG

1 paper

NM_014364.5

p.A369fs

c.1105_1106fs

1 paper

NM_014364.5

p.L375L

c.1125C>T

1 paper

NM_014364.5

p.Y386H

c.1156T>C

1 paper

NM_014364.5

p.Y392H

c.1174T>C

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.G344D

c.1031G>A

1 paper

NM_014364.5

p.Y327*

c.981C>G

2 papers

NM_014364.5

p.P326A

c.976C>G

4 papers

NM_014364.5

p.D311N

c.931G>A

1 paper

NM_014364.5

p.A304A

c.912G>A