Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E257delFs

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.E257delFs
c.769delG
Surrounding Variants
1 paper
NM_145239.3
p.V256fs
c.766_767fs
9 papers
NM_145239.3
p.G259insFs
c.776dupG
2 papers
NM_145239.3
p.G255E
c.764G>A
1 paper
NM_145239.3
p.V256del1
c.766_767delGTG
1 paper
NM_145239.3
p.G258R
c.772G>A
1 paper
NM_145239.3
p.G258R
c.772G>C
1 paper
NM_145239.3
p.V256delFs
c.766delG
1 paper
NM_145239.3
p.P254L
c.761C>T
2 papers
NM_145239.3
p.G258E
c.773G>A
2 papers
NM_145239.3
p.G253D
c.758G>A
1 paper
NM_145239.3
p.G259G
c.777T>A
5 papers
NM_145239.3
p.E260*
c.778G>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."