Varaico: Literature-Extracted Genetic Variants

Gene:CALB1
Variant:p.L21H

CALB1

136 papers

RefSeq Summary

The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kD...

Pfam Domains

EF-hand_7aa 101–171UCSCEF-hand domain pair
EF-hand_1aa 190–218UCSCEF hand domain

Gene Aliases

HGNC Name

calbindin 1

HGNC Previous Name

calbindin 1, 28kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004929.4
p.L21H
c.62T>A
Surrounding Variants
1 paper
NM_004929.4
p.H22Y
c.64C>T
1 paper
NM_004929.4
p.E18V
c.53A>T
1 paper
NM_004929.4
p.F16I
c.46T>A
1 paper
NM_004929.4
p.G27R
c.79G>A
1 paper
NM_004929.4
p.S8T
c.22T>A
5 papers
NM_004929.4
p.L31L
c.93G>A
1 paper
NM_004929.4
p.G33E
c.98G>A
1 paper
NM_004929.4
p.K34Q
c.100A>C
1 paper
NM_004929.4
p.L39F
c.117G>T
1 paper
NM_004929.4
p.L39F
c.117G>C
1 paper
NM_004929.4
p.Q41L
c.122A>T
1 paper
NM_004929.4
p.E42K
c.124G>A
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