Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.T6del1

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.T6del1
c.16_18delTGT
Surrounding Variants
1 paper
NM_000055.4
p.C9W
c.27C>G
1 paper
NM_000055.4
p.K4K
c.12A>G
5 papers
NM_000055.4
p.R11K
c.32G>A
1 paper
NM_000055.4
p.S3R
c.7A>C
1 paper
NM_000055.4
p.M1I
c.3G>T
1 paper
NM_000055.4
p.M1I
c.3G>A
1 paper
NM_000055.4
p.M1V
c.1A>G
1 paper
NM_000055.4
p.W15*
c.44G>A
1 paper
NM_000055.4
p.W15C
c.45G>C
1 paper
NM_000055.4
p.F16_L18del3
c.46_53del9
1 paper
NM_000055.4
p.C20_M21ins1
c.60_61insAGC
2 papers
NM_000055.4
p.L22H
c.65T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."