Varaico: Literature-Extracted Genetic Variants

Gene:CAPS
Variant:p.G120R

CAPS

94 papers

RefSeq Summary

This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog th...

Pfam Domains

EF-hand_7aa 23–87UCSCEF-hand domain pair
EF-hand_5aa 98–122UCSCEF hand

Gene Aliases

HGNC Name

calcyphosine

HGNC Alias Symbols

CAPS1; MGC126562

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004058.5
p.G120R
c.358G>A
Surrounding Variants
1 paper
NM_004058.5
p.G120R
c.358G>C
1 paper
NM_004058.5
p.G120E
c.359G>A
1 paper
NM_004058.5
p.S123R
c.369T>A
3 papers
NM_004058.5
p.A126delFs
c.377delC
1 paper
NM_004058.5
p.G111S
c.331G>A
1 paper
NM_004058.5
p.D110V
c.329A>T
1 paper
NM_004058.5
p.R107C
c.319C>T
1 paper
NM_004058.5
p.T136A
c.406A>G
1 paper
NM_004058.5
p.E137K
c.409G>A
2 papers
NM_004058.5
p.R94Q
c.281G>A
1 paper
NM_004058.5
p.N147_F148insFs
c.441_442insA
1 paper
NM_004058.5
p.D149G
c.446A>G
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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."