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.H180R

c.539A>G

Surrounding Variants

1 paper

NM_004285.4

p.H180L

c.539A>T

1 paper

NM_004285.4

p.H180D

c.538C>G

1 paper

NM_004285.4

p.H180Y

c.538C>T

1 paper

NM_004285.4

p.F181Y

c.542T>A

1 paper

NM_004285.4

p.D179N

c.535G>A

1 paper

NM_004285.4

p.D179delFs

c.535_536delGA

3 papers

NM_004285.4

p.H178N

c.532C>A

1 paper

NM_004285.4

p.A183V

c.548C>T

1 paper

NM_004285.4

p.F176L

c.526T>C

1 paper

NM_004285.4

p.P175P

c.525C>T

1 paper

NM_004285.4

p.Q185R

c.554A>G

1 paper

NM_004285.4

p.L186V

c.556C>G