Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q263*

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
5 papers
NM_145239.3
p.Q263*
c.787C>T
Surrounding Variants
1 paper
NM_145239.3
p.Q263E
c.787C>G
1 paper
NM_145239.3
p.Q263L
c.788A>T
1 paper
NM_145239.3
p.Q263insFs
c.787_788insC
1 paper
NM_145239.3
p.G261R
c.781G>C
1 paper
NM_145239.3
p.E260D
c.780A>C
1 paper
NM_145239.3
p.E260D
c.780A>T
1 paper
NM_145239.3
p.P265L
c.794C>T
2 papers
NM_145239.3
p.R266insFs
c.796_797insGG
1 paper
NM_145239.3
p.R266fs
c.796_797fs
15 papers
NM_145239.3
p.R266W
c.796C>T
5 papers
NM_145239.3
p.E260*
c.778G>T
7 papers
NM_145239.3
p.R266Q
c.797G>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."