Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E133fs

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
2 papers
NM_145239.3
p.E133fs
c.397_398fs
Surrounding Variants
1 paper
NM_145239.3
p.E133K
c.397G>A
1 paper
NM_145239.3
p.E133*
c.397G>T
2 papers
NM_145239.3
p.E133delFs
c.397delG
2 papers
NM_145239.3
p.E133_P136del4
c.397_407del12
1 paper
NM_145239.3
p.P132L
c.395C>T
1 paper
NM_145239.3
p.P132T
c.394C>A
1 paper
NM_145239.3
p.P132S
c.394C>T
1 paper
NM_145239.3
p.P131S
c.391C>T
1 paper
NM_145239.3
p.A135P
c.403G>C
3 papers
NM_145239.3
p.A130V
c.389C>T
4 papers
NM_145239.3
p.A130fs
c.388_389fs
3 papers
NM_145239.3
p.A130delFs
c.388delG
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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."