Varaico: Literature-Extracted Genetic Variants

Gene:CABP1
Variant:p.L269R

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.L269R
c.806T>G
Surrounding Variants
1 paper
NM_001033677.2
p.N274fs
c.820_821fs
1 paper
NM_001033677.2
p.N274_M275insFs
c.822_823insT
1 paper
NM_001033677.2
p.Y259fs
c.775_776fs
1 paper
NM_001033677.2
p.Y259_M260delFs
c.776_779del4
1 paper
NM_001033677.2
p.N246K
c.738C>A
1 paper
NM_001033677.2
p.N246K
c.738C>G
1 paper
NM_001033677.2
p.G243S
c.727G>A
1 paper
NM_001033677.2
p.D238N
c.712G>A
1 paper
NM_001033677.2
p.E226K
c.676G>A
1 paper
NM_001033677.2
p.R308R
c.922C>A
2 papers
NM_001033677.2
p.R308*
c.922C>T
1 paper
NM_001033677.2
p.H337Y
c.1009C>T
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