Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.H353N

ACHE

427 papers

RefSeq Summary

Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red bloo...

Pfam Domains

COesteraseaa 37–563UCSCCarboxylesterase family
AChE_tetraaa 578–611UCSCAcetylcholinesterase tetramerisation domain

Gene Aliases

HGNC Name

acetylcholinesterase

HGNC Previous Symbol

YT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_000665.5
p.H353N
c.1057C>A
Surrounding Variants
1 paper
NM_000665.5
p.A349T
c.1045G>A
1 paper
NM_000665.5
p.A345G
c.1034C>G
4 papers
NM_000665.5
p.A345delFs
c.1033delC
2 papers
NM_000665.5
p.E344G
c.1031A>G
3 papers
NM_000665.5
p.E344insFs
c.1030_1031insC
1 paper
NM_000665.5
p.T342T
c.1026C>G
1 paper
NM_000665.5
p.Q356_V357Splc
c.1068+21G>A
1 paper
NM_000665.5
p.D341D
c.1023C>T
3 papers
NM_000665.5
p.S340_D341insFs
c.1020_1021insA
2 papers
NM_000665.5
p.V333E
c.998T>A
6 papers
NM_000665.5
p.F330Y
c.989T>A
1 paper
NM_000665.5
p.S329P
c.985T>C
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