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.V340L

c.1018G>C

Surrounding Variants

1 paper

NM_004285.4

p.A339Splc

c.1016-1G>A

8 papers

NM_004285.4

p.V342M

c.1024G>A

1 paper

NM_004285.4

p.V342L

c.1024G>C

1 paper

NM_004285.4

p.H343P

c.1028A>C

1 paper

NM_004285.4

p.I344T

c.1031T>C

1 paper

NM_004285.4

p.D345A

c.1034A>C

2 papers

NM_004285.4

p.R348C

c.1042C>T

2 papers

NM_004285.4

p.E350Q

c.1048G>C

1 paper

NM_004285.4

p.E350A

c.1049A>C

1 paper

NM_004285.4

p.G351V

c.1052G>T

1 paper

NM_004285.4

p.P353S

c.1057C>T

1 paper

NM_004285.4

p.I355V

c.1063A>G