Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.W259*

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.W259*
c.776G>A
Surrounding Variants
1 paper
NM_000055.4
p.W259*
c.777G>A
1 paper
NM_000055.4
p.A257Fs
c.771delinsAAAGTGGATCCTTTAATGCTFs
1 paper
NM_000055.4
p.A257V
c.770C>T
1 paper
NM_000055.4
p.F255V
c.763T>G
1 paper
NM_000055.4
p.S254P
c.760T>C
1 paper
NM_000055.4
p.Y265F
c.794A>T
1 paper
NM_000055.4
p.Y265fs
c.793_794fs
1 paper
NM_000055.4
p.R268S
c.804G>T
1 paper
NM_000055.4
p.R268S
c.804G>C
1 paper
NM_000055.4
p.N269insFs
c.806_807insC
14 papers
NM_000055.4
p.T271M
c.812C>T
1 paper
NM_000055.4
p.F245F
c.735C>T
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