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.P70del1

c.208_210delCCC

Surrounding Variants

1 paper

NM_004285.4

p.A69V

c.206C>T

1 paper

NM_004285.4

p.L67M

c.199C>A

1 paper

NM_004285.4

p.K71insFs

c.212_213insG

1 paper

NM_004285.4

p.A66D

c.197C>A

1 paper

NM_004285.4

p.Q72_G73del2

c.214_218del6

1 paper

NM_004285.4

p.A66T

c.196G>A

1 paper

NM_004285.4

p.Q72L

c.215A>T

1 paper

NM_004285.4

p.A65A

c.195T>G

1 paper

NM_004285.4

p.A65D

c.194C>A

2 papers

NM_004285.4

p.A65V

c.194C>T

2 papers

NM_004285.4

p.G73S

c.217G>A

1 paper

NM_004285.4

p.G64_A65insFs

c.192_193insG