Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R145R

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
1 paper
NM_145239.3
p.R145R
c.435G>A
Surrounding Variants
3 papers
NM_145239.3
p.P146S
c.436C>T
5 papers
NM_145239.3
p.R145Q
c.434G>A
1 paper
NM_145239.3
p.R145fs
c.433_434fs
5 papers
NM_145239.3
p.R145G
c.433C>G
3 papers
NM_145239.3
p.R145W
c.433C>T
6 papers
NM_145239.3
p.R145fs
c.433_434fs
20 papers
NM_145239.3
p.D147H
c.439G>C
1 paper
NM_145239.3
p.P144_R145del0
c.430_435del6
2 papers
NM_145239.3
p.R145insFs
c.433dupC
4 papers
NM_145239.3
p.R145delFs
c.433delC
1 paper
NM_145239.3
p.S148T
c.442T>A
1 paper
NM_145239.3
p.S148A
c.442T>G
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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."