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

2 papers

NM_004285.4

p.L172F

c.514C>T

Surrounding Variants

1 paper

NM_004285.4

p.L172insFs

c.514_515insCA

1 paper

NM_004285.4

p.E173K

c.517G>A

1 paper

NM_004285.4

p.E173D

c.519G>C

1 paper

NM_004285.4

p.R169Q

c.506G>A

2 papers

NM_004285.4

p.R169W

c.505C>T

1 paper

NM_004285.4

p.P175P

c.525C>T

1 paper

NM_004285.4

p.L168M

c.502C>A

1 paper

NM_004285.4

p.F176L

c.526T>C

3 papers

NM_004285.4

p.H178N

c.532C>A

1 paper

NM_004285.4

p.D179delFs

c.535_536delGA

1 paper

NM_004285.4

p.D179N

c.535G>A

1 paper

NM_004285.4

p.G165C

c.493G>T