Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.V109fs

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.V109fs
c.325_326fs
Surrounding Variants
1 paper
NM_145239.3
p.T108K
c.323C>A
2 papers
NM_145239.3
p.T108insFs
c.324dupA
1 paper
NM_145239.3
p.T108_V109delFs
c.324_325delAG
1 paper
NM_145239.3
p.T108ins1
c.322_323insGAC
4 papers
NM_145239.3
p.T108fs
c.322_323fs
2 papers
NM_145239.3
p.S110T
c.328T>A
1 paper
NM_145239.3
p.S110fs
c.328_329fs
4 papers
NM_145239.3
p.T108delFs
c.323_324delCA
1 paper
NM_145239.3
p.E107G
c.320A>G
2 papers
NM_145239.3
p.T108delFs
c.322delA
3 papers
NM_145239.3
p.T108_P112delFs
c.324_334del11
3 papers
NM_145239.3
p.K111ins1
c.332_333insGAC
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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."