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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CALN1

Variant:p.R232Q

CALN1

7q11.22 (UCSC)OMIM GTEx

36 papers

RefSeq Summary

This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alterna...

Pfam Domains

EF-hand_7aa 80–143UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calneuron 1

HGNC Alias Symbol

CABP8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:71787866 C>T

NM_031468.4

p.R232Q

c.695G>A

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=14, hom=0)89 overlapping SVs

Surrounding Variants

chr7:71787786 C>T

NM_031468.4

p.G259S

c.775G>A

Exome: 0.0% (AC=9, hom=0)Genome: n/a89 overlapping SVs

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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."