Varaico: Literature-Extracted Genetic Variants

CYP4B1

123 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 46–501UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 4 subfamily B member 1

HGNC Previous Names

cytochrome P450, subfamily IVB, polypeptide 1; cytochrome P450, family 4, subfamily B, polypeptide 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001099772.2

p.R341S

c.1021C>A

Surrounding Variants

4 papers

NM_000779.4

p.R340C

c.1018C>T

NM_001099772.2

p.R341C

c.1021C>T

7 papers

NM_001099772.2

p.H340Y

c.1018C>T

2 papers

NM_001099772.2

p.E345K

c.1033G>A

1 paper

NM_001099772.2

p.P336P

c.1008T>C

5 papers

NM_000779.4

p.M331I

c.993G>A

NM_001099772.2

p.M332I

c.996G>A

5 papers

NM_000779.4

p.M331I

c.993G>C

NM_001099772.2

p.M332I

c.996G>C

5 papers

NM_000779.4

p.M331I

c.993G>T

NM_001099772.2

p.M332I

c.996G>T

2 papers

NM_001099772.2

p.Y330Y

c.990C>T

1 paper

NM_001099772.2

p.S323S

c.969T>C

4 papers

NM_001099772.2

p.T322A

c.964A>G

2 papers

NM_001099772.2

p.A308T

c.922G>A

1 paper

NM_001099772.2

p.R307Q

c.920G>A