Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.H67H

HPCA

50 papers

RefSeq Summary

The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities ...

Pfam Domains

EF-hand_1aa 64–92UCSCEF hand domain
EF-hand_7aa 98–174UCSCEF-hand domain pair

Gene Aliases

HGNC Name

hippocalcin

HGNC Previous Symbol

DYT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002143.3
p.H67H
c.201C>T
Surrounding Variants
1 paper
NM_002143.3
p.E66K
c.196G>A
2 papers
NM_002143.3
p.R70P
c.209G>C
1 paper
NM_002143.3
p.T71_D73del0
c.212_217del6
9 papers
NM_002143.3
p.T71N
c.212C>A
3 papers
NM_002143.3
p.A61V
c.182C>T
1 paper
NM_002143.3
p.A61T
c.181G>A
1 paper
NM_002143.3
p.N75S
c.224A>G
1 paper
NM_002143.3
p.D60H
c.178G>C
7 papers
NM_002143.3
p.N75K
c.225C>A
7 papers
NM_002143.3
p.N75K
c.225C>G
1 paper
NM_002143.3
p.G59_D60del2
c.175_179del6
1 paper
NM_002143.3
p.D77N
c.229G>A
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