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.V452L

c.1354G>C

Surrounding Variants

1 paper

NM_004285.4

p.V452L

c.1354G>T

1 paper

NM_004285.4

p.V452A

c.1355T>C

2 papers

NM_004285.4

p.P451L

c.1352C>T

1 paper

NM_004285.4

p.R453W

c.1357C>T

40 papers

NM_004285.4

p.R453Q

c.1358G>A

1 paper

NM_004285.4

p.S450I

c.1349G>T

1 paper

NM_004285.4

p.E454*

c.1360G>T

1 paper

NM_004285.4

p.E454delFs

c.1361delA

1 paper

NM_004285.4

p.R455delFs

c.1363delC

1 paper

NM_004285.4

p.R455Q

c.1364G>A

1 paper

NM_004285.4

p.A448V

c.1343C>T

3 papers

NM_004285.4

p.A448T

c.1342G>A