Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.E174A

CALHM1

64 papers

RefSeq Summary

This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset...

Pfam Domains

Ca_hom_modaa 2–256UCSCCalcium homeostasis modulator

Gene Aliases

HGNC Name

calcium homeostasis modulator 1

HGNC Previous Symbol

FAM26C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001412.4
p.E174A
c.521A>C
Surrounding Variants
1 paper
NM_001001412.4
p.R178C
c.532C>T
1 paper
NM_001001412.4
p.R178H
c.533G>A
1 paper
NM_001001412.4
p.Y179*
c.537C>G
1 paper
NM_001001412.4
p.Y179*
c.537C>A
1 paper
NM_001001412.4
p.D168N
c.502G>A
1 paper
NM_001001412.4
p.D166N
c.496G>A
1 paper
NM_001001412.4
p.Q185*
c.553C>T
1 paper
NM_001001412.4
p.Q185L
c.554A>T
1 paper
NM_001001412.4
p.E163A
c.488A>C
1 paper
NM_001001412.4
p.E163Q
c.487G>C
1 paper
NM_001001412.4
p.P162P
c.486T>G
1 paper
NM_001001412.4
p.C161S
c.482G>C
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