Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.R396W

CYP24A1

290 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 58–512UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 24 subfamily A member 1

HGNC Previous Symbol

CYP24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
73 papers
NM_000782.5
p.R396W
c.1186C>T
Surrounding Variants
1 paper
NM_000782.5
p.R396G
c.1186C>G
13 papers
NM_000782.5
p.R396Q
c.1187G>A
1 paper
NM_000782.5
p.L398P
c.1193T>C
2 papers
NM_000782.5
p.P392fs
c.1174_1175fs
3 papers
NM_000782.5
p.V391L
c.1171G>T
3 papers
NM_000782.5
p.V391L
c.1171G>C
1 paper
NM_000782.5
p.V391I
c.1171G>A
1 paper
NM_000782.5
p.S390C
c.1168A>T
1 paper
NM_000782.5
p.T402I
c.1205C>T
5 papers
NM_000782.5
p.P389L
c.1166C>T
4 papers
NM_000782.5
p.V403fs
c.1207_1208fs
1 paper
NM_000782.5
p.V403I
c.1207G>A
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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."