Varaico: Literature-Extracted Genetic Variants

Gene:CABP1
Variant:p.R207W

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.R207W
c.619C>T
Surrounding Variants
1 paper
NM_001033677.2
p.P203P
c.609G>A
1 paper
NM_001033677.2
p.P203L
c.608C>T
1 paper
NM_001033677.2
p.G183G
c.549C>T
1 paper
NM_001033677.2
p.P163_P164del2
c.487_491del6
1 paper
NM_001033677.2
p.Q140R
c.419A>G
1 paper
NM_001033677.2
p.S112_G113ins5
c.334_338ins15
1 paper
NM_001033677.2
p.G95E
c.284G>A
1 paper
NM_001033677.2
p.R92W
c.274C>T
1 paper
NM_001033677.2
p.H88H
c.264C>T
1 paper
NM_001033677.2
p.A74E
c.221C>A
1 paper
NM_001033677.2
p.P55delFs
c.163_164delCC
1 paper
NM_001033677.2
p.G49D
c.146G>A
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