Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.V286E

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.V286E
c.857T>A
Surrounding Variants
1 paper
NM_145239.3
p.V286A
c.857T>C
5 papers
NM_145239.3
p.V286M
c.856G>A
14 papers
NM_145239.3
p.A287T
c.859G>A
1 paper
NM_145239.3
p.A287D
c.860C>A
1 paper
NM_145239.3
p.F288I
c.862T>A
1 paper
NM_145239.3
p.A289T
c.865G>A
1 paper
NM_145239.3
p.A289D
c.866C>A
1 paper
NM_145239.3
p.Y290insFs
c.868dupT
1 paper
NM_145239.3
p.A289V
c.866C>T
1 paper
NM_145239.3
p.V283A
c.848T>C
1 paper
NM_145239.3
p.Y290fs
c.868_869fs
1 paper
NM_145239.3
p.Y290F
c.869A>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."