Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2

PRRT2

1,464 papers

RefSeq Summary

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and ...

Pfam Domains

CD225aa 264–331UCSCInterferon-induced transmembrane protein

Gene Aliases

HGNC Name

proline rich transmembrane protein 2

HGNC Previous Symbols

ICCA; DYT10

Papers
RefSeq ID
Protein change
DNA change
1–12 of 783 variants
308 papers
NM_145239.3
p.R217insFs
c.649dupC
156 papers
NM_145239.3
p.R217fs
c.649_650fs
76 papers
NM_145239.3
p.R217delFs
c.649delC
38 papers
NM_145239.3
p.R217*
c.649C>T
32 papers
NM_145239.3
p.R217fs
c.649_650fs
26 papers
NM_145239.3
p.G305R
c.913G>A
22 papers
NM_145239.3
p.R240*
c.718C>T
21 papers
NM_145239.3
p.P138A
c.412C>G
20 papers
NM_145239.3
p.D147H
c.439G>C
20 papers
NM_145239.3
p.G305R
c.913G>C
19 papers
NM_145239.3
p.P210insFs
c.629dupC
19 papers
NM_145239.3
p.A214P
c.640G>C
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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."