Varaico: Literature-Extracted Genetic Variants

CYP4F12

83 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 52–515UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 4 subfamily F member 12

HGNC Previous Names

cytochrome P450, subfamily IVF, polypeptide 12; cytochrome P450, family 4, subfamily F, polypeptide 12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023944.4

p.S5insFs

c.14_15insC

Surrounding Variants

1 paper

NM_023944.4

p.L9insFs

c.27dupG

1 paper

NM_023944.4

p.L11F

c.31C>T

3 papers

NM_023944.4

p.P13L

c.38C>T

1 paper

NM_023944.4

p.V14_A15insC

c.40_44ins3

3 papers

NM_023944.4

p.T16M

c.47C>T

1 paper

NM_023944.4

p.V26fs

c.76_77fs

1 paper

NM_023944.4

p.V26delFs

c.78delG

1 paper

NM_023944.4

p.W37*

c.110G>A

1 paper

NM_023944.4

p.W37*

c.111G>A

2 papers

NM_023944.4

p.Y42Y

c.126T>C

1 paper

NM_023944.4

p.L48L

c.144C>G

2 papers

NM_023944.4

p.Q49E

c.145C>G