Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.K208N

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.K208N
c.624A>T
Surrounding Variants
1 paper
NM_000055.4
p.K208N
c.624A>C
1 paper
NM_000055.4
p.N209Y
c.625A>T
3 papers
NM_000055.4
p.W205C
c.615G>T
3 papers
NM_000055.4
p.W205C
c.615G>C
9 papers
NM_000055.4
p.A212V
c.635C>T
1 paper
NM_000055.4
p.G195G
c.585T>C
1 paper
NM_000055.4
p.G195delFs
c.584delC
1 paper
NM_000055.4
p.L222R
c.665T>G
2 papers
NM_000055.4
p.L222H
c.665T>A
1 paper
NM_000055.4
p.G195C
c.583G>T
2 papers
NM_000055.4
p.F223fs
c.667_668fs
1 paper
NM_000055.4
p.L222_F223delFs
c.666_667delAG
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