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

2 papers

NM_004285.4

p.L49P

c.146T>C

Surrounding Variants

1 paper

NM_004285.4

p.L49L

c.147G>C

1 paper

NM_004285.4

p.Q48H

c.144G>C

3 papers

NM_004285.4

p.Y50F

c.149A>T

1 paper

NM_004285.4

p.Y50Y

c.150C>T

1 paper

NM_004285.4

p.L51L

c.151C>T

1 paper

NM_004285.4

p.F47_Q48insFs

c.141_142insC

1 paper

NM_004285.4

p.L46delFs

c.138delG

1 paper

NM_004285.4

p.L46M

c.136C>A

1 paper

NM_004285.4

p.L46fs

c.136_137fs

1 paper

NM_004285.4

p.L46insFs

c.137_138insT

1 paper

NM_004285.4

p.E53K

c.157G>A

1 paper

NM_004285.4

p.E53G

c.158A>G