Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.M12delFs

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.M12delFs
c.36delG
Surrounding Variants
1 paper
NM_002143.3
p.M12fs
c.34_35fs
1 paper
NM_002143.3
p.E11K
c.31G>A
1 paper
NM_002143.3
p.E11fs
c.31_32fs
1 paper
NM_002143.3
p.P10delFs
c.28delC
5 papers
NM_002143.3
p.R17*
c.49C>T
1 paper
NM_002143.3
p.E18G
c.53A>G
1 paper
NM_002143.3
p.T20delFs
c.59_60delCA
1 paper
NM_002143.3
p.K3_Q4delins
c.9_10delinsTT
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.M1T
c.2T>C
1 paper
NM_002143.3
p.Q28*
c.82C>T
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