Varaico: Literature-Extracted Genetic Variants

H6PD

957 papers

RefSeq Summary

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especiall...

Pfam Domains

G6PD_Naa 29–213UCSCGlucose-6-phosphate dehydrogenase, NAD binding domain

G6PD_Caa 215–514UCSCGlucose-6-phosphate dehydrogenase, C-terminal domain

Glucosamine_isoaa 558–782UCSCGlucosamine-6-phosphate isomerases/6-phosphogluconolactonase

Gene Aliases

HGNC Name

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

HGNC Previous Symbol

GDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004285.4

p.T269S

c.805A>T

Surrounding Variants

1 paper

NM_004285.4

p.E270Q

c.808G>C

1 paper

NM_004285.4

p.E270G

c.809A>G

1 paper

NM_004285.4

p.H267_L268insFs

c.801_802insA

1 paper

NM_004285.4

p.H267R

c.800A>G

1 paper

NM_004285.4

p.V271I

c.811G>A

1 paper

NM_004285.4

p.L272V

c.814C>G

1 paper

NM_004285.4

p.L272F

c.814C>T

1 paper

NM_004285.4

p.T273A

c.817A>G

1 paper

NM_004285.4

p.Q265*

c.793C>T

1 paper

NM_004285.4

p.L264L

c.792C>G

1 paper

NM_004285.4

p.L274F

c.820C>T

1 paper

NM_004285.4

p.L274L

c.822C>G