Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.L182S

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.L182S
c.545T>C
Surrounding Variants
2 papers
NM_000055.4
p.L184S
c.551T>C
1 paper
NM_000055.4
p.G180A
c.539G>C
1 paper
NM_000055.4
p.G180E
c.539G>A
2 papers
NM_000055.4
p.G180*
c.538G>T
1 paper
NM_000055.4
p.P185insFs
c.553_554ins5
1 paper
NM_000055.4
p.N187Y
c.559A>T
1 paper
NM_000055.4
p.G177C
c.529G>T
1 paper
NM_000055.4
p.P188A
c.562C>G
1 paper
NM_000055.4
p.E189K
c.565G>A
1 paper
NM_000055.4
p.A190G
c.569C>G
4 papers
NM_000055.4
p.P191T
c.571C>A
1 paper
NM_000055.4
p.N173D
c.517A>G
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