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.L190Q

c.569T>A

Surrounding Variants

1 paper

NM_001360016.2

p.S189insFs

c.567dupC

1 paper

NM_000402.4

p.S218_L220insFs

c.653_659dup7

1 paper

NM_001360016.2

p.L190L

c.570G>A

2 papers

NM_001360016.2

p.L190L

c.568C>T

6 papers

NM_001360016.2

p.I187_S188del1

c.561_563delGAG

5 papers

NM_001360016.2

p.F191L

c.571T>C

1 paper

NM_000402.4

p.S219S

c.657C>A

1 paper

NM_001360016.2

p.S189A

c.565T>G

1 paper

NM_001360016.2

p.F191F

c.573C>T

7 papers

NM_001360016.2

p.F191L

c.573C>G

4 papers

NM_001360016.2

p.F191L

c.573C>A

4 papers

NM_001360016.2

p.R192C

c.574C>T