Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.L119L

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.L119L
c.355C>T
Surrounding Variants
2 papers
NM_001001412.4
p.D121N
c.361G>A
1 paper
NM_001001412.4
p.V117I
c.349G>A
1 paper
NM_001001412.4
p.W114*
c.342G>A
1 paper
NM_001001412.4
p.W114*
c.341G>A
1 paper
NM_001001412.4
p.V113I
c.337G>A
1 paper
NM_001001412.4
p.C127S
c.379T>A
1 paper
NM_001001412.4
p.C127S
c.380G>C
1 paper
NM_001001412.4
p.R106H
c.317G>A
1 paper
NM_001001412.4
p.V135L
c.403G>T
1 paper
NM_001001412.4
p.V135L
c.403G>C
1 paper
NM_001001412.4
p.G146R
c.436G>C
1 paper
NM_001001412.4
p.R89Q
c.266G>A
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