Varaico: Literature-Extracted Genetic Variants

Gene:CYP7A1
Variant:p.I7S

CYP7A1

185 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 32–497UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 7 subfamily A member 1

HGNC Previous Symbol

CYP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000780.4
p.I7S
c.20T>G
Surrounding Variants
1 paper
NM_000780.4
p.S5S
c.15T>G
1 paper
NM_000780.4
p.M2I
c.6G>A
1 paper
NM_000780.4
p.I12L
c.34A>C
1 paper
NM_000780.4
p.I12R
c.35T>G
1 paper
NM_000780.4
p.M2L
c.4A>T
1 paper
NM_000780.4
p.M2L
c.4A>C
4 papers
NM_000780.4
p.A13V
c.38C>T
2 papers
NM_000780.4
p.M1V
c.1A>G
1 paper
NM_000780.4
p.L22F
c.64C>T
1 paper
NM_000780.4
p.R27Splc
c.80+512A>C
1 paper
NM_000780.4
p.R27Splc
c.81-13T>C
1 paper
NM_000780.4
p.R27R
c.81G>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."