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.N105Y

c.313A>T

Surrounding Variants

1 paper

NM_014364.5

p.D110N

c.328G>A

2 papers

NM_014364.5

p.P111A

c.331C>G

1 paper

NM_014364.5

p.Y113D

c.337T>G

4 papers

NM_014364.5

p.E96Q

c.286G>C

1 paper

NM_014364.5

p.A93S

c.277G>T

1 paper

NM_014364.5

p.H124R

c.371A>G

1 paper

NM_014364.5

p.V131V

c.393G>T

2 papers

NM_014364.5

p.G82Splc

c.245+7C>T

1 paper

NM_014364.5

p.P55P

c.165G>A

1 paper

NM_014364.5

p.P55Q

c.164C>A

1 paper

NM_014364.5

p.V23Splc

c.68-5C>T

2 papers

NM_014364.5

p.P157A

c.469C>G