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

10 papers

NM_004285.4

p.P335Q

c.1004C>A

Surrounding Variants

6 papers

NM_004285.4

p.P335L

c.1004C>T

1 paper

NM_004285.4

p.P335S

c.1003C>T

1 paper

NM_004285.4

p.T334T

c.1002G>A

2 papers

NM_004285.4

p.T334M

c.1001C>T

1 paper

NM_004285.4

p.F337L

c.1009T>C

1 paper

NM_004285.4

p.F337Y

c.1010T>A

1 paper

NM_004285.4

p.F337S

c.1010T>C

1 paper

NM_004285.4

p.F337L

c.1011C>A

1 paper

NM_004285.4

p.F337L

c.1011C>G

1 paper

NM_004285.4

p.H331R

c.992A>G

1 paper

NM_004285.4

p.H331Y

c.991C>T

1 paper

NM_004285.4

p.S329G

c.985A>G