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.P488P

c.1464T>C

Surrounding Variants

1 paper

NM_004285.4

p.L489V

c.1465C>G

1 paper

NM_004285.4

p.L489L

c.1465C>T

1 paper

NM_004285.4

p.W486S

c.1457G>C

1 paper

NM_004285.4

p.W486G

c.1456T>G

1 paper

NM_004285.4

p.N484D

c.1450A>G

1 paper

NM_004285.4

p.S482C

c.1445C>G

1 paper

NM_004285.4

p.S482F

c.1445C>T

1 paper

NM_004285.4

p.K496E

c.1486A>G

1 paper

NM_004285.4

p.K496*

c.1486A>T

1 paper

NM_004285.4

p.L480P

c.1439T>C

1 paper

NM_004285.4

p.A497A

c.1491C>T

1 paper

NM_004285.4

p.P498T

c.1492C>A