Varaico: Literature-Extracted Genetic Variants

Gene:CAPS2
Variant:p.R247S

CAPS2

19 papers

RefSeq Summary

Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008].

Gene Aliases

HGNC Name

calcyphosine 2

HGNC Previous Name

calcyphosphine 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001355024.4
p.R247S
c.739C>A
Surrounding Variants
1 paper
NM_001355024.4
p.D200Y
c.598G>T
1 paper
NM_001355024.4
p.E330D
c.990A>T
1 paper
NM_001355024.4
p.E330D
c.990A>C
1 paper
NM_001286547.3
p.L321*
c.962T>A
1 paper
NM_001355024.4
p.D347N
c.1039G>A
1 paper
NM_001355024.4
p.E364V
c.1091A>T
1 paper
NM_001355024.4
p.R368T
c.1103G>C
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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."