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.T113A

c.337A>G

Surrounding Variants

1 paper

NM_004285.4

p.T113M

c.338C>T

4 papers

NM_004285.4

p.K112M

c.335A>T

1 paper

NM_004285.4

p.K112Q

c.334A>C

1 paper

NM_004285.4

p.K112*

c.334A>T

2 papers

NM_004285.4

p.A114V

c.341C>T

1 paper

NM_004285.4

p.L111P

c.332T>C

1 paper

NM_004285.4

p.L111L

c.331C>T

1 paper

NM_004285.4

p.E115K

c.343G>A

1 paper

NM_004285.4

p.Q110R

c.329A>G

1 paper

NM_004285.4

p.D116H

c.346G>C

1 paper

NM_004285.4

p.D116G

c.347A>G

1 paper

NM_004285.4

p.R109H

c.326G>A