Varaico: Literature-Extracted Genetic Variants

Gene:CAPS
Variant:p.M8I

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.M8I
c.24G>A
Surrounding Variants
1 paper
NM_004058.5
p.L11L
c.33C>G
1 paper
NM_004058.5
p.D5Y
c.13G>T
1 paper
NM_004058.5
p.V4V
c.12G>C
1 paper
NM_004058.5
p.A3insFs
c.8dupC
1 paper
NM_004058.5
p.C15Y
c.44G>A
1 paper
NM_004058.5
p.M1I
c.3G>A
1 paper
NM_004058.5
p.M1I
c.3G>C
1 paper
NM_004058.5
p.M1I
c.3G>T
1 paper
NM_004058.5
p.R18H
c.53G>A
1 paper
NM_004058.5
p.G19E
c.56G>A
1 paper
NM_004058.5
p.R28W
c.82A>T
1 paper
NM_004058.5
p.F29delFs
c.87delT
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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."