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.K39_K40del2

c.115_119del6

Surrounding Variants

1 paper

NM_004285.4

p.K40E

c.118A>G

2 papers

NM_004285.4

p.K40*

c.118A>T

1 paper

NM_004285.4

p.D36D

c.108C>T

2 papers

NM_004285.4

p.D36N

c.106G>A

1 paper

NM_004285.4

p.G35E

c.104G>A

1 paper

NM_004285.4

p.G35Fs

c.104delinsTCCFs

1 paper

NM_004285.4

p.T34S

c.101C>G

1 paper

NM_004285.4

p.W43R

c.127T>A

2 papers

NM_004285.4

p.W43R

c.127T>C

1 paper

NM_004285.4

p.A33_G35Fs

c.98_104delinsTCCFs

1 paper

NM_004285.4

p.G32G

c.96A>G

1 paper

NM_004285.4

p.G32E

c.95G>A