Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.Y156S

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.Y156S
c.467A>C
Surrounding Variants
1 paper
NM_000055.4
p.Y156F
c.467A>T
1 paper
NM_000055.4
p.Y156C
c.467A>G
1 paper
NM_000055.4
p.V155I
c.463G>A
2 papers
NM_000055.4
p.G158D
c.473G>A
1 paper
NM_000055.4
p.H154Y
c.460C>T
1 paper
NM_000055.4
p.H154N
c.460C>A
1 paper
NM_000055.4
p.L153_H154insFs
c.459_460insG
1 paper
NM_000055.4
p.S152S
c.456T>A
1 paper
NM_000055.4
p.A162A
c.486T>C
3 papers
NM_000055.4
p.Q147*
c.439C>T
1 paper
NM_000055.4
p.F146fs
c.436_437fs
1 paper
NM_000055.4
p.R166G
c.496A>G
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