Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.Y223*

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.Y223*
c.669T>G
Surrounding Variants
1 paper
NM_001001412.4
p.Y223*
c.669T>A
1 paper
NM_001001412.4
p.H222R
c.665A>G
1 paper
NM_001001412.4
p.W220*
c.660G>A
1 paper
NM_001001412.4
p.W220*
c.659G>A
1 paper
NM_001001412.4
p.Y219*
c.657C>G
1 paper
NM_001001412.4
p.Y219*
c.657C>A
1 paper
NM_001001412.4
p.D232E
c.696C>G
1 paper
NM_001001412.4
p.E233*
c.697G>T
1 paper
NM_001001412.4
p.A213T
c.637G>A
2 papers
NM_001001412.4
p.Q211*
c.631C>T
1 paper
NM_001001412.4
p.T210M
c.629C>T
1 paper
NM_001001412.4
p.H256Y
c.766C>T
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