Varaico: Literature-Extracted Genetic Variants

G6PD

1,597 papers

RefSeq Summary

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the def...

Pfam Domains

G6PD_Naa 35–210UCSCGlucose-6-phosphate dehydrogenase, NAD binding domain

G6PD_Caa 212–509UCSCGlucose-6-phosphate dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glucose-6-phosphate dehydrogenase

HGNC Alias Symbol

G6PD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001360016.2

p.E460D

c.1380G>T

Surrounding Variants

5 papers

NM_001360016.2

p.E460D

c.1380G>C

1 paper

NM_001360016.2

p.A461S

c.1381G>T

33 papers

NM_001360016.2

p.A461T

c.1381G>A

NM_000402.4

p.A491T

c.1471G>A

1 paper

NM_001360016.2

p.A461delFs

c.1382_1383delGG

269 papers

NM_001360016.2

p.R459L

c.1376G>T

NM_000402.4

p.R489L

c.1466G>T

28 papers

NM_001360016.2

p.R459P

c.1376G>C

11 papers

NM_001360016.2

p.R459H

c.1376G>A

4 papers

NM_001360016.2

p.R459G

c.1375C>G

1 paper

NM_001360016.2

p.R459S

c.1375C>A

1 paper

NM_001360016.2

p.W462C

c.1386G>T

1 paper

NM_001360016.2

p.W462*

c.1386G>A

32 papers

NM_001360016.2

p.R463C

c.1387C>T

NM_000402.4

p.R493C

c.1477C>T