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.S706S

c.2118A>G

Surrounding Variants

1 paper

NM_004285.4

p.D711G

c.2132A>G

1 paper

NM_004285.4

p.D711delins

c.2132_2133delinsGG

1 paper

NM_004285.4

p.G712D

c.2135G>A

1 paper

NM_004285.4

p.S723P

c.2167T>C

4 papers

NM_004285.4

p.P725T

c.2173C>A

1 paper

NM_004285.4

p.R727S

c.2179C>A

1 paper

NM_004285.4

p.S685N

c.2054G>A

1 paper

NM_004285.4

p.R728delFs

c.2184delC

1 paper

NM_004285.4

p.P734T

c.2200C>A

1 paper

NM_004285.4

p.A679V

c.2036C>T

1 paper

NM_004285.4

p.P734S

c.2200C>T

1 paper

NM_004285.4

p.R738S

c.2212C>A