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.F193del1

c.577_578delTTT

Surrounding Variants

1 paper

NM_004285.4

p.T192_F193insG

c.574_578ins3

2 papers

NM_004285.4

p.G191A

c.572G>C

1 paper

NM_004285.4

p.F194L

c.580T>C

1 paper

NM_004285.4

p.G191W

c.571G>T

1 paper

NM_004285.4

p.F194Y

c.581T>A

1 paper

NM_004285.4

p.F194S

c.581T>C

1 paper

NM_004285.4

p.F194L

c.582C>A

1 paper

NM_004285.4

p.F194L

c.582C>G

1 paper

NM_004285.4

p.Q195R

c.584A>G

1 paper

NM_004285.4

p.Q195H

c.585G>C

1 paper

NM_004285.4

p.Q195H

c.585G>T

1 paper

NM_004285.4

p.E196E

c.588G>A