Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.C309*

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.C309*
c.927C>A
Surrounding Variants
1 paper
NM_001001412.4
p.H307R
c.920A>G
1 paper
NM_001001412.4
p.S305R
c.915C>G
1 paper
NM_001001412.4
p.S305R
c.915C>A
1 paper
NM_001001412.4
p.R314L
c.941G>T
1 paper
NM_001001412.4
p.S305R
c.913A>C
1 paper
NM_001001412.4
p.M323I
c.969G>T
1 paper
NM_001001412.4
p.M323I
c.969G>C
1 paper
NM_001001412.4
p.M323I
c.969G>A
1 paper
NM_001001412.4
p.T294M
c.881C>T
1 paper
NM_001001412.4
p.R291C
c.871C>T
1 paper
NM_001001412.4
p.G329R
c.985G>C
1 paper
NM_001001412.4
p.G329R
c.985G>A
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