Varaico: Literature-Extracted Genetic Variants

CYP39A1

62 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 29–463UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 39 subfamily A member 1

HGNC Previous Names

cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1; cytochrome P450, family 39, subfamily A, polypeptide 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 95 variants

7 papers

NM_016593.5

p.R23P

c.68G>C

6 papers

NM_016593.5

p.R103H

c.308G>A

6 papers

NM_016593.5

p.N324K

c.972T>G

6 papers

NM_016593.5

p.N324K

c.972T>A

4 papers

NM_016593.5

p.G204E

c.611G>A

4 papers

NM_016593.5

p.R389C

c.1165C>T

3 papers

NM_016593.5

p.Y288H

c.862T>C

3 papers

NM_016593.5

p.K329Q

c.985A>C

3 papers

NM_016593.5

p.R337H

c.1010G>A

2 papers

NM_016593.5

p.L174P

c.521T>C

2 papers

NM_016593.5

p.S238C

c.713C>G

2 papers

NM_016593.5

p.T256M

c.767C>T