Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.G62fs

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.G62fs
c.184_185fs
Surrounding Variants
1 paper
NM_145239.3
p.G62R
c.184G>A
3 papers
NM_145239.3
p.G62_P63delFs
c.186_187delGC
1 paper
NM_145239.3
p.P63T
c.187C>A
1 paper
NM_145239.3
p.P63S
c.187C>T
4 papers
NM_145239.3
p.P63fs
c.187_188fs
1 paper
NM_145239.3
p.D60A
c.179A>C
1 paper
NM_145239.3
p.P63P
c.189C>A
1 paper
NM_145239.3
p.K64*
c.190A>T
2 papers
NM_145239.3
p.V59G
c.176T>G
1 paper
NM_145239.3
p.A65G
c.194C>G
2 papers
NM_145239.3
p.P58P
c.174T>A
1 paper
NM_145239.3
p.P58insFs
c.173_174insA
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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."