Varaico: Literature-Extracted Genetic Variants

Gene:CALB2

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
1–12 of 28 variants
2 papers
NM_001740.5
p.G34E
c.101G>A
1 paper
NM_001740.5
p.P4P
c.12G>A
1 paper
NM_001740.5
p.P4P
c.12G>C
1 paper
NM_001740.5
p.A30E
c.89C>A
1 paper
NM_001740.5
p.E37V
c.110A>T
1 paper
NM_001740.5
p.L41L
c.123A>G
1 paper
NM_001740.5
p.K50fs
c.148_149fs
1 paper
NM_001740.5
p.K50_A51delFs
c.150_151delGG
1 paper
NM_001740.5
p.M57_M58Splc
c.172-67C>T
1 paper
NM_001740.5
p.E87_L88Splc
c.261+14C>T
1 paper
NM_001740.5
p.A89A
c.267G>A
1 paper
NM_001740.5
p.A110T
c.328G>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."