Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.D221A

CYP7B1

247 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 46–499UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 7 subfamily B member 1

HGNC Previous Symbol

SPG5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004820.5
p.D221A
c.662A>C
Surrounding Variants
1 paper
NM_004820.5
p.D221E
c.663C>G
1 paper
NM_004820.5
p.D221E
c.663C>A
1 paper
NM_004820.5
p.K222fs
c.664_665fs
1 paper
NM_004820.5
p.K222delFs
c.664_665delTT
1 paper
NM_004820.5
p.K218_F219Fs
c.654_655delinsGFs
4 papers
NM_004820.5
p.L217insFs
c.650dupT
3 papers
NM_004820.5
p.L217*
c.650T>G
3 papers
NM_004820.5
p.L217*
c.650T>A
2 papers
NM_004820.5
p.L217fs
c.649_650fs
13 papers
NM_004820.5
p.F216S
c.647T>C
1 paper
NM_004820.5
p.L226L
c.678A>G
1 paper
NM_004820.5
p.D214H
c.640G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."