Varaico: Literature-Extracted Genetic Variants

Gene:CALB2
Variant:p.Q183H

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.Q183H
c.549G>T
Surrounding Variants
1 paper
NM_001740.5
p.R178Splc
c.534-5C>T
1 paper
NM_001740.5
p.R178L
c.533G>T
1 paper
NM_001740.5
p.L165F
c.495G>C
1 paper
NM_001740.5
p.L165F
c.495G>T
1 paper
NM_001740.5
p.F206V
c.616T>G
1 paper
NM_001740.5
p.P146L
c.437C>T
1 paper
NM_001740.5
p.N144_R145del0
c.430_435del6
1 paper
NM_001740.5
p.D226_N231delFs
c.677_693del17
1 paper
NM_001740.5
p.K230insFs
c.689dupA
1 paper
NM_001740.5
p.K233_E234Splc
c.699+297T>C
1 paper
NM_001740.5
p.R123K
c.368G>A
1 paper
NM_001740.5
p.R123M
c.368G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."