Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.D119N

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
1 paper
NM_000055.4
p.D119N
c.355G>A
Surrounding Variants
1 paper
NM_000055.4
p.E118K
c.352G>A
1 paper
NM_000055.4
p.L116H
c.347T>A
1 paper
NM_000055.4
p.L123L
c.367C>T
1 paper
NM_000055.4
p.W126Fs
c.376delinsCAFs
1 paper
NM_000055.4
p.W110*
c.330G>A
1 paper
NM_000055.4
p.W110*
c.329G>A
3 papers
NM_000055.4
p.W110R
c.328T>C
3 papers
NM_000055.4
p.W110R
c.328T>A
1 paper
NM_000055.4
p.P128S
c.382C>T
1 paper
NM_000055.4
p.M109L
c.325A>T
1 paper
NM_000055.4
p.E108A
c.323A>C
1 paper
NM_000055.4
p.K131insFs
c.393dupA
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