Varaico: Literature-Extracted Genetic Variants

CYP2F1

81 papers

RefSeq Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cho...

Pfam Domains

p450aa 31–488UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 2 subfamily F member 1

HGNC Previous Names

cytochrome P450, subfamily IIF, polypeptide 1; cytochrome P450, family 2, subfamily F, polypeptide 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000774.5

p.N479H

c.1435A>C

Surrounding Variants

2 papers

NM_000774.5

p.R482W

c.1444C>T

3 papers

NM_000774.5

p.R489H

c.1466G>A

6 papers

NM_000774.5

p.P490L

c.1469C>T

2 papers

NM_000774.5

p.L448V

c.1342C>G

3 papers

NM_000774.5

p.R433H

c.1298G>A

1 paper

NM_000774.5

p.G432Splc

c.1295-2A>G

1 paper

NM_000774.5

p.G432Splc

c.1294+777A>G

1 paper

NM_000774.5

p.A431D

c.1292C>A

1 paper

NM_000774.5

p.K421*

c.1261A>T

1 paper

NM_000774.5

p.L403_T404insFs

c.1209_1210insC

1 paper

NM_000774.5

p.L403M

c.1207C>A

1 paper

NM_000774.5

p.L391P

c.1172T>C