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.L13_L14delFs

c.39_40delTC

Surrounding Variants

1 paper

NM_004285.4

p.L14fs

c.40_41fs

2 papers

NM_004285.4

p.L14Q

c.41T>A

1 paper

NM_004285.4

p.L13delFs

c.37delC

1 paper

NM_004285.4

p.L11F

c.33G>C

1 paper

NM_004285.4

p.L11V

c.31T>G

1 paper

NM_004285.4

p.C16delFs

c.48delC

1 paper

NM_004285.4

p.L17L

c.49C>T

1 paper

NM_004285.4

p.M9K

c.26T>A

1 paper

NM_004285.4

p.Q18*

c.52C>T

1 paper

NM_004285.4

p.Q18L

c.53A>T

2 papers

NM_004285.4

p.A8E

c.23C>A

1 paper

NM_004285.4

p.A8_M9del1

c.24_26delGAT