Varaico: Literature-Extracted Genetic Variants

Gene:CAPS
Variant:p.G168D

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.G168D
c.503G>A
Surrounding Variants
1 paper
NM_004058.5
p.S167R
c.501C>A
1 paper
NM_004058.5
p.M173V
c.517A>G
1 paper
NM_004058.5
p.Q163H
c.489G>C
1 paper
NM_004058.5
p.D176N
c.526G>A
1 paper
NM_004058.5
p.F179C
c.536T>G
1 paper
NM_004058.5
p.T184S
c.550A>T
1 paper
NM_004058.5
p.A186A
c.558C>T
1 paper
NM_004058.5
p.G155R
c.463G>A
1 paper
NM_004058.5
p.G155R
c.463G>C
1 paper
NM_004058.5
p.D149G
c.446A>G
1 paper
NM_004058.5
p.N147_F148insFs
c.441_442insA
1 paper
NM_004058.5
p.E137K
c.409G>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."