Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.G41R

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.G41R
c.121G>A
Surrounding Variants
1 paper
NM_002143.3
p.G41R
c.121G>C
1 paper
NM_002143.3
p.L43F
c.127C>T
1 paper
NM_002143.3
p.Y31fs
c.91_92fs
1 paper
NM_002143.3
p.Y31_G33delFs
c.91_98del8
1 paper
NM_002143.3
p.Q28*
c.82C>T
1 paper
NM_002143.3
p.G59_D60del2
c.175_179del6
1 paper
NM_002143.3
p.D60H
c.178G>C
1 paper
NM_002143.3
p.E21D
c.63G>C
1 paper
NM_002143.3
p.E21D
c.63G>T
1 paper
NM_002143.3
p.A61T
c.181G>A
3 papers
NM_002143.3
p.A61V
c.182C>T
1 paper
NM_002143.3
p.T20delFs
c.59_60delCA
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