Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.S243L

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
3 papers
NM_000055.4
p.S243L
c.728C>T
Surrounding Variants
1 paper
NM_000055.4
p.S241delFs
c.723delG
1 paper
NM_000055.4
p.H242N
c.724C>A
1 paper
NM_000055.4
p.F245F
c.735C>T
1 paper
NM_000055.4
p.G240*
c.718G>T
1 paper
NM_000055.4
p.L237F
c.709C>T
1 paper
NM_000055.4
p.L236S
c.707T>C
1 paper
NM_000055.4
p.S254P
c.760T>C
3 papers
NM_000055.4
p.V232D
c.695T>A
1 paper
NM_000055.4
p.F255V
c.763T>G
1 paper
NM_000055.4
p.S231L
c.692C>T
1 paper
NM_000055.4
p.A257V
c.770C>T
1 paper
NM_000055.4
p.A257Fs
c.771delinsAAAGTGGATCCTTTAATGCTFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."