Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.R452*

BCHE

407 papers

RefSeq Summary

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxifica...

Pfam Domains

COesteraseaa 30–550UCSCCarboxylesterase family
AChE_tetraaa 565–599UCSCAcetylcholinesterase tetramerisation domain

Gene Aliases

HGNC Name

butyrylcholinesterase

HGNC Previous Symbols

CHE1; CHE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000055.4
p.R452*
c.1354C>T
Surrounding Variants
1 paper
NM_000055.4
p.R452Q
c.1355G>A
1 paper
NM_000055.4
p.E450A
c.1349A>C
1 paper
NM_000055.4
p.E450Q
c.1348G>C
1 paper
NM_000055.4
p.Y448insFs
c.1343_1344insT
1 paper
NM_000055.4
p.L456R
c.1367T>G
3 papers
NM_000055.4
p.F446V
c.1336T>G
1 paper
NM_000055.4
p.P459L
c.1376C>T
4 papers
NM_000055.4
p.E460K
c.1378G>A
1 paper
NM_000055.4
p.E460A
c.1379A>C
1 paper
NM_000055.4
p.N443H
c.1327A>C
1 paper
NM_000055.4
p.W461C
c.1383G>T
1 paper
NM_000055.4
p.W461C
c.1383G>C
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