Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.T328N

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.T328N
c.983C>A
Surrounding Variants
1 paper
NM_000055.4
p.P331L
c.992C>T
1 paper
NM_000055.4
p.P331P
c.993A>T
1 paper
NM_000055.4
p.D323A
c.968A>C
1 paper
NM_000055.4
p.V322L
c.964G>T
1 paper
NM_000055.4
p.V322L
c.964G>C
2 papers
NM_000055.4
p.V322M
c.964G>A
1 paper
NM_000055.4
p.L335F
c.1003C>T
5 papers
NM_000055.4
p.L335P
c.1004T>C
2 papers
NM_000055.4
p.P320L
c.959C>T
1 paper
NM_000055.4
p.F318Y
c.953T>A
3 papers
NM_000055.4
p.F340_K341insFs
c.1020_1021insA
1 paper
NM_000055.4
p.K341*
c.1021A>T
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