Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.H256Y

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.H256Y
c.766C>T
Surrounding Variants
1 paper
NM_001001412.4
p.D257N
c.769G>A
1 paper
NM_001001412.4
p.E259Q
c.775G>C
1 paper
NM_001001412.4
p.H262R
c.785A>G
1 paper
NM_001001412.4
p.H264N
c.790C>A
1 paper
NM_001001412.4
p.H264R
c.791A>G
1 paper
NM_001001412.4
p.S273S
c.819C>T
1 paper
NM_001001412.4
p.A274T
c.820G>A
1 paper
NM_001001412.4
p.E233*
c.697G>T
1 paper
NM_001001412.4
p.D232E
c.696C>G
3 papers
NM_001001412.4
p.G282C
c.844G>T
1 paper
NM_001001412.4
p.E285*
c.853G>T
1 paper
NM_001001412.4
p.Y223*
c.669T>G
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