Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.E283D

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
2 papers
NM_000055.4
p.E283D
c.849G>C
Surrounding Variants
2 papers
NM_000055.4
p.E283D
c.849G>T
1 paper
NM_000055.4
p.N284S
c.851A>G
1 paper
NM_000055.4
p.E285A
c.854A>C
1 paper
NM_000055.4
p.I288_I289insT
c.862_866ins3
1 paper
NM_000055.4
p.I288T
c.863T>C
1 paper
NM_000055.4
p.I288M
c.864A>G
1 paper
NM_000055.4
p.I289M
c.867C>G
2 papers
NM_000055.4
p.K276*
c.826A>T
1 paper
NM_000055.4
p.K290_C291insFs
c.870_871insGT
1 paper
NM_000055.4
p.A275insFs
c.823_824insC
1 paper
NM_000055.4
p.N273N
c.819C>T
1 paper
NM_000055.4
p.K295R
c.884A>G
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