Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.K435_K436insG

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
3 papers
NM_000055.4
p.K435_K436insG
c.1303_1307ins3
Surrounding Variants
3 papers
NM_000055.4
p.F433V
c.1297T>G
5 papers
NM_000055.4
p.L431_E432insFs
c.1293_1294insG
1 paper
NM_000055.4
p.S438P
c.1312T>C
2 papers
NM_000055.4
p.E432*
c.1294G>T
1 paper
NM_000055.4
p.N443H
c.1327A>C
3 papers
NM_000055.4
p.F446V
c.1336T>G
2 papers
NM_000055.4
p.D423delFs
c.1267delC
1 paper
NM_000055.4
p.V421_G422insFs
c.1263_1264insC
1 paper
NM_000055.4
p.Y448insFs
c.1343_1344insT
2 papers
NM_000055.4
p.V421A
c.1262T>C
1 paper
NM_000055.4
p.E450Q
c.1348G>C
1 paper
NM_000055.4
p.E450A
c.1349A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."