Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.E150D

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.E150D
c.450G>T
Surrounding Variants
1 paper
NM_002143.3
p.E150E
c.450G>A
1 paper
NM_002143.3
p.E150D
c.450G>C
1 paper
NM_002143.3
p.P145delFs
c.435delG
1 paper
NM_002143.3
p.T158delFs
c.474delA
1 paper
NM_002143.3
p.G162S
c.484G>A
1 paper
NM_002143.3
p.G162Splc
c.484+2T>G
1 paper
NM_002143.3
p.M138L
c.412A>C
1 paper
NM_002143.3
p.M138L
c.412A>T
1 paper
NM_002143.3
p.G162Splc
c.484+6G>T
1 paper
NM_002143.3
p.V135L
c.403G>C
1 paper
NM_002143.3
p.V135L
c.403G>T
1 paper
NM_002143.3
p.I128N
c.383T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."