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.S486T

c.1457G>C

Surrounding Variants

1 paper

NM_001360016.2

p.S486Splc

c.1457+1G>A

1 paper

NM_001360016.2

p.S486R

c.1456A>C

1 paper

NM_001360016.2

p.G485D

c.1454G>A

1 paper

NM_000402.4

p.G515_S516insC

c.1543_1547ins3

1 paper

NM_001360016.2

p.Y482_I483del2

c.1444_1448del6

1 paper

NM_001360016.2

p.I483I

c.1449T>C

2 papers

NM_001360016.2

p.I483T

c.1448T>C

1 paper

NM_001360016.2

p.I483V

c.1447A>G

1 paper

NM_001360016.2

p.Y482Y

c.1446T>C

1 paper

NM_001360016.2

p.P481P

c.1443C>T

3 papers

NM_001360016.2

p.P481R

c.1442C>G

1 paper

NM_001360016.2

p.P481S

c.1441C>T