Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.K595N

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.K595N
c.1785G>T
Surrounding Variants
1 paper
NM_000055.4
p.K595N
c.1785G>C
1 paper
NM_000055.4
p.S594I
c.1781G>T
1 paper
NM_000055.4
p.D591N
c.1771G>A
1 paper
NM_000055.4
p.F589Y
c.1766T>A
1 paper
NM_000055.4
p.L602F
c.1804C>T
4 papers
NM_000055.4
p.N579delFs
c.1735delT
1 paper
NM_000055.4
p.R577R
c.1731C>T
2 papers
NM_000055.4
p.R577H
c.1730G>A
1 paper
NM_000055.4
p.W571C
c.1713G>T
1 paper
NM_000055.4
p.W571C
c.1713G>C
1 paper
NM_000055.4
p.W569*
c.1707G>A
1 paper
NM_000055.4
p.W569*
c.1706G>A
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