Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.T271M

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
14 papers
NM_000055.4
p.T271M
c.812C>T
Surrounding Variants
1 paper
NM_000055.4
p.N269insFs
c.806_807insC
1 paper
NM_000055.4
p.N273N
c.819C>T
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.A275insFs
c.823_824insC
2 papers
NM_000055.4
p.K276*
c.826A>T
1 paper
NM_000055.4
p.Y265fs
c.793_794fs
1 paper
NM_000055.4
p.Y265F
c.794A>T
1 paper
NM_000055.4
p.W259*
c.777G>A
1 paper
NM_000055.4
p.W259*
c.776G>A
2 papers
NM_000055.4
p.E283D
c.849G>T
2 papers
NM_000055.4
p.E283D
c.849G>C
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