Varaico: Literature-Extracted Genetic Variants

Gene:CABP1
Variant:p.R20_G25del6

CABP1

48 papers

RefSeq Summary

Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share si...

Pfam Domains

EF-hand_7aa 212–291UCSCEF-hand domain pair
EF-hand_1aa 306–334UCSCEF hand domain
EF-hand_1aa 343–370UCSCEF hand domain

Gene Aliases

HGNC Name

calcium binding protein 1

HGNC Alias Names

calbrain; caldendrin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001033677.2
p.R20_G25del6
c.58_74del18
Surrounding Variants
1 paper
NM_001033677.2
p.G23R
c.67G>A
1 paper
NM_001033677.2
p.G23V
c.68G>T
1 paper
NM_001033677.2
p.G13E
c.38G>A
1 paper
NM_001033677.2
p.E29*
c.85G>T
1 paper
NM_001033677.2
p.F9S
c.26T>C
1 paper
NM_001033677.2
p.A7_F9del0
c.20_25del6
1 paper
NM_001033677.2
p.G37_G49delFs
c.110_146del37
1 paper
NM_001033677.2
p.P38insFs
c.112_113ins5
1 paper
NM_001033677.2
p.M1L
c.1A>C
1 paper
NM_001033677.2
p.M1L
c.1A>T
1 paper
NM_001033677.2
p.T43fs
c.127_128fs
1 paper
NM_001033677.2
p.T43T
c.129C>G
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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."