Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.R414C

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
12 papers
NM_000055.4
p.R414C
c.1240C>T
Surrounding Variants
1 paper
NM_000055.4
p.R414H
c.1241G>A
1 paper
NM_000055.4
p.N412Y
c.1234A>T
1 paper
NM_000055.4
p.P410S
c.1228C>T
1 paper
NM_000055.4
p.P410A
c.1228C>G
14 papers
NM_000055.4
p.G418V
c.1253G>T
2 papers
NM_000055.4
p.V421A
c.1262T>C
1 paper
NM_000055.4
p.V421_G422insFs
c.1263_1264insC
2 papers
NM_000055.4
p.D423delFs
c.1267delC
1 paper
NM_000055.4
p.Y401_T402insA
c.1201_1205ins3
2 papers
NM_000055.4
p.E432*
c.1294G>T
5 papers
NM_000055.4
p.L431_E432insFs
c.1293_1294insG
3 papers
NM_000055.4
p.F433V
c.1297T>G
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