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

1 paper

NM_001360016.2

p.Y49N

c.145T>A

Surrounding Variants

55 papers

NM_001360016.2

p.I48T

c.143T>C

NM_000402.4

p.I78T

c.233T>C

1 paper

NM_001360016.2

p.I48N

c.143T>A

1 paper

NM_001360016.2

p.Y49Y

c.147C>T

7 papers

NM_001360016.2

p.P50S

c.148C>T

1 paper

NM_001360016.2

p.I48L

c.142A>C

1 paper

NM_001360016.2

p.A44_K47del4

c.130_140del12

1 paper

NM_001360016.2

p.K47N

c.141G>T

1 paper

NM_001360016.2

p.K47_I48insFs

c.141_142insC

2 papers

NM_001360016.2

p.K47N

c.141G>C

1 paper

NM_000402.4

p.K77delFs

c.229delT

1 paper

NM_001360016.2

p.P50R

c.149C>G

2 papers

NM_001360016.2

p.P50P

c.150C>T