Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.I168del1

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.I168del1
c.502_504delAAT
Surrounding Variants
8 papers
NM_000055.4
p.V170M
c.508G>A
1 paper
NM_000055.4
p.R166G
c.496A>G
1 paper
NM_000055.4
p.N173D
c.517A>G
1 paper
NM_000055.4
p.A162A
c.486T>C
1 paper
NM_000055.4
p.G177C
c.529G>T
2 papers
NM_000055.4
p.G158D
c.473G>A
2 papers
NM_000055.4
p.G180*
c.538G>T
1 paper
NM_000055.4
p.G180A
c.539G>C
1 paper
NM_000055.4
p.G180E
c.539G>A
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.Y156S
c.467A>C
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