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.P87L

c.260C>T

Surrounding Variants

1 paper

NM_004285.4

p.P87T

c.259C>A

1 paper

NM_004285.4

p.S85P

c.253T>C

1 paper

NM_004285.4

p.L84L

c.252C>T

1 paper

NM_004285.4

p.L84P

c.251T>C

1 paper

NM_004285.4

p.E82D

c.246A>T

3 papers

NM_004285.4

p.P92S

c.274C>T

1 paper

NM_004285.4

p.E82V

c.245A>T

1 paper

NM_004285.4

p.E82*

c.244G>T

1 paper

NM_004285.4

p.H94_Q104del11

c.280_311del33

1 paper

NM_004285.4

p.H94Q

c.282C>A

1 paper

NM_004285.4

p.C95delFs

c.283delT

1 paper

NM_004285.4

p.A80T

c.238G>A