Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.W103*

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
3 papers
NM_002143.3
p.W103*
c.308G>A
Surrounding Variants
1 paper
NM_002143.3
p.W103*
c.309G>A
1 paper
NM_002143.3
p.L97Q
c.290T>A
1 paper
NM_002143.3
p.R96C
c.286C>T
1 paper
NM_002143.3
p.G112S
c.334G>A
1 paper
NM_002143.3
p.V91M
c.271G>A
1 paper
NM_002143.3
p.V91_E98del8
c.271_293del24
2 papers
NM_002143.3
p.R83Q
c.248G>A
1 paper
NM_002143.3
p.R83W
c.247C>T
1 paper
NM_002143.3
p.V125insFs
c.373dupG
1 paper
NM_002143.3
p.V125M
c.373G>A
1 paper
NM_002143.3
p.D77N
c.229G>A
7 papers
NM_002143.3
p.N75K
c.225C>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."