Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Y268*

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.Y268*
c.804C>G
Surrounding Variants
1 paper
NM_145239.3
p.Y268*
c.804C>A
1 paper
NM_145239.3
p.I269_S275ins2
c.805_825dup21
1 paper
NM_145239.3
p.I269L
c.805A>C
1 paper
NM_145239.3
p.D267_Y268insFs
c.801_802insA
1 paper
NM_145239.3
p.I269I
c.807C>T
2 papers
NM_145239.3
p.I270V
c.808A>G
1 paper
NM_145239.3
p.D267G
c.800A>G
2 papers
NM_145239.3
p.L271F
c.811C>T
7 papers
NM_145239.3
p.R266Q
c.797G>A
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
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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."