Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1

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
1–12 of 113 variants
6 papers
NM_001001412.4
p.R154H
c.461G>A
4 papers
NM_001001412.4
p.L86P
c.257T>C
4 papers
NM_001001412.4
p.G330D
c.989G>A
3 papers
NM_001001412.4
p.Q16R
c.47A>G
3 papers
NM_001001412.4
p.G282C
c.844G>T
2 papers
NM_001001412.4
p.Q10R
c.29A>G
2 papers
NM_001001412.4
p.Q13R
c.38A>G
2 papers
NM_001001412.4
p.D121N
c.361G>A
2 papers
NM_001001412.4
p.Q211*
c.631C>T
1 paper
NM_001001412.4
p.R6Q
c.17G>A
1 paper
NM_001001412.4
p.F11I
c.31T>A
1 paper
NM_001001412.4
p.F11Y
c.32T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."