Varaico: Literature-Extracted Genetic Variants

CYP2E1

420 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 33–489UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 2 subfamily E member 1

HGNC Previous Names

cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1; cytochrome P450, family 2, subfamily E, polypeptide 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 261 variants

32 papers

NM_000773.4

p.R76H

c.227G>A

29 papers

NM_000773.4

p.V179I

c.535G>A

25 papers

NM_000773.4

p.R24M

c.71G>T

20 papers

NM_000773.4

p.V389I

c.1165G>A

16 papers

NM_000773.4

p.A340V

c.1019C>T

12 papers

NM_000773.4

p.N118D

c.352A>G

11 papers

NM_000773.4

p.A352V

c.1055C>T

10 papers

NM_000773.4

p.I114T

c.341T>C

7 papers

NM_000773.4

p.G173S

c.517G>A

6 papers

NM_000773.4

p.P34S

c.100C>T

5 papers

NM_000773.4

p.H457L

c.1370A>T

4 papers

NM_000773.4

p.V72L

c.214G>C