Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.Q13K

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.Q13K
c.37C>A
Surrounding Variants
1 paper
NM_001001412.4
p.Q13E
c.37C>G
2 papers
NM_001001412.4
p.Q13R
c.38A>G
1 paper
NM_001001412.4
p.F11Y
c.32T>A
1 paper
NM_001001412.4
p.S14S
c.42C>A
1 paper
NM_001001412.4
p.F11I
c.31T>A
2 papers
NM_001001412.4
p.Q10R
c.29A>G
1 paper
NM_001001412.4
p.Q16K
c.46C>A
3 papers
NM_001001412.4
p.Q16R
c.47A>G
1 paper
NM_001001412.4
p.E17Q
c.49G>C
1 paper
NM_001001412.4
p.F19insFs
c.56_57ins13
1 paper
NM_001001412.4
p.R6Q
c.17G>A
1 paper
NM_001001412.4
p.G22C
c.64G>T
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