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.F419L

c.1257C>A

Surrounding Variants

1 paper

NM_004285.4

p.F419L

c.1257C>G

1 paper

NM_004285.4

p.F419L

c.1255T>C

1 paper

NM_004285.4

p.P421L

c.1262C>T

1 paper

NM_004285.4

p.P421P

c.1263C>T

1 paper

NM_004285.4

p.S422A

c.1264T>G

2 papers

NM_004285.4

p.S415R

c.1245C>A

2 papers

NM_004285.4

p.S415R

c.1245C>G

2 papers

NM_004285.4

p.S415R

c.1243A>C

2 papers

NM_004285.4

p.S415C

c.1243A>T

1 paper

NM_004285.4

p.S426R

c.1276A>C

3 papers

NM_004285.4

p.L413V

c.1237C>G

1 paper

NM_004285.4

p.S426T

c.1277G>C