Varaico: Literature-Extracted Genetic Variants

Gene:CALB1
Variant:p.D199G

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.D199G
c.596A>G
Surrounding Variants
1 paper
NM_004929.4
p.D199Y
c.595G>T
1 paper
NM_004929.4
p.E190A
c.569A>C
1 paper
NM_004929.4
p.Q182E
c.544C>G
1 paper
NM_004929.4
p.V173G
c.518T>G
1 paper
NM_004929.4
p.E166K
c.496G>A
1 paper
NM_004929.4
p.L151M
c.451C>A
1 paper
NM_004929.4
p.N203D
c.607A>G
1 paper
NM_004929.4
p.E210K
c.628G>A
1 paper
NM_004929.4
p.A134G
c.401C>G
1 paper
NM_004929.4
p.L130M
c.388C>A
1 paper
NM_004929.4
p.L241L
c.723G>A
1 paper
NM_004929.4
p.T250M
c.749C>T
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