Varaico: Literature-Extracted Genetic Variants

Gene:CALB2
Variant:p.P4P

CALB2

64 papers

RefSeq Summary

This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a rol...

Pfam Domains

EF-hand_7aa 19–92UCSCEF-hand domain pair
EF-hand_7aa 110–180UCSCEF-hand domain pair
EF-hand_6aa 199–229UCSCEF-hand domain

Gene Aliases

HGNC Name

calbindin 2

HGNC Alias Symbol

CAL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001740.5
p.P4P
c.12G>C
Surrounding Variants
1 paper
NM_001740.5
p.P4P
c.12G>A
1 paper
NM_001740.5
p.A30E
c.89C>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."