Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.R96W

CYP17A1

773 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 28–493UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 17 subfamily A member 1

HGNC Previous Symbol

CYP17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
40 papers
NM_000102.4
p.R96W
c.286C>T
Surrounding Variants
1 paper
NM_000102.4
p.R96L
c.287G>T
23 papers
NM_000102.4
p.R96Q
c.287G>A
1 paper
NM_000102.4
p.S94F
c.281C>T
1 paper
NM_000102.4
p.S94A
c.280T>G
1 paper
NM_000102.4
p.S94P
c.280T>C
2 papers
NM_000102.4
p.F93L
c.279C>G
2 papers
NM_000102.4
p.F93L
c.279C>A
1 paper
NM_000102.4
p.Q98L
c.293A>T
13 papers
NM_000102.4
p.F93C
c.278T>G
2 papers
NM_000102.4
p.F93L
c.277T>C
9 papers
NM_000102.4
p.M99_A100Splc
c.297+2T>C
1 paper
NM_000102.4
p.K91T
c.272A>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."