Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.Y31fs

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.Y31fs
c.91_92fs
Surrounding Variants
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.E21D
c.63G>C
1 paper
NM_002143.3
p.E21D
c.63G>T
1 paper
NM_002143.3
p.G41R
c.121G>A
1 paper
NM_002143.3
p.G41R
c.121G>C
1 paper
NM_002143.3
p.T20delFs
c.59_60delCA
1 paper
NM_002143.3
p.L43F
c.127C>T
1 paper
NM_002143.3
p.E18G
c.53A>G
5 papers
NM_002143.3
p.R17*
c.49C>T
1 paper
NM_002143.3
p.M12delFs
c.36delG
1 paper
NM_002143.3
p.M12fs
c.34_35fs
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