Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P216H

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
Selected Variant
12 papers
NM_145239.3
p.P216H
c.647C>A
Surrounding Variants
9 papers
NM_145239.3
p.P216R
c.647C>G
11 papers
NM_145239.3
p.P216L
c.647C>T
1 paper
NM_145239.3
p.P216A
c.646C>G
32 papers
NM_145239.3
p.R217fs
c.649_650fs
2 papers
NM_145239.3
p.R217G
c.649C>G
38 papers
NM_145239.3
p.R217*
c.649C>T
6 papers
NM_145239.3
p.R217delFs
c.650delG
1 paper
NM_145239.3
p.R217delFs
c.650_651delGA
156 papers
NM_145239.3
p.R217fs
c.649_650fs
18 papers
NM_145239.3
p.P215R
c.644C>G
5 papers
NM_145239.3
p.R217Q
c.650G>A
7 papers
NM_145239.3
p.R217P
c.650G>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."