Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.F65L

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.F65L
c.193T>C
Surrounding Variants
1 paper
NM_001001412.4
p.F65L
c.195T>G
1 paper
NM_001001412.4
p.F65L
c.195T>A
1 paper
NM_001001412.4
p.L62insFs
c.184dupC
1 paper
NM_001001412.4
p.V70L
c.208G>C
1 paper
NM_001001412.4
p.G55S
c.163G>A
1 paper
NM_001001412.4
p.A54E
c.161C>A
1 paper
NM_001001412.4
p.M77V
c.229A>G
1 paper
NM_001001412.4
p.Y52*
c.156C>G
1 paper
NM_001001412.4
p.Y52*
c.156C>A
1 paper
NM_001001412.4
p.E80K
c.238G>A
1 paper
NM_001001412.4
p.N49S
c.146A>G
1 paper
NM_001001412.4
p.Y48*
c.144C>G
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