Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6

CYP2D6

1,730 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 34–494UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)

HGNC Previous Symbols

CYP2DL1; CYP2D7P2; CYP2D7BP; CYP2D8P2; CYP2D7AP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1069 variants
554 papers
NM_000106.6
p.P34S
c.100C>T
226 papers
NM_000106.6
p.R296C
c.886C>T
215 papers
NM_000106.6
p.S486T
c.1457G>C
108 papers
NM_000106.6
p.T107I
c.320C>T
100 papers
NM_000106.6
p.V11M
c.31G>A
94 papers
NM_000106.6
p.G169R
c.505G>A
73 papers
NM_000106.6
p.G42R
c.124G>A
45 papers
NM_000106.6
p.G169R
c.505G>C
45 papers
NM_000106.6
p.K281del1
c.841_842delCTT
43 papers
NM_000106.6
p.F120I
c.358T>A
39 papers
NM_000106.6
p.V338M
c.1012G>A
37 papers
NM_000106.6
p.L46_L47insFs
c.138_139insT
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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."