Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E127fs

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.E127fs
c.379_380fs
Surrounding Variants
2 papers
NM_145239.3
p.E127delFs
c.379delG
2 papers
NM_145239.3
p.R125R
c.375G>A
1 paper
NM_145239.3
p.R125S
c.375G>C
2 papers
NM_145239.3
p.A129T
c.385G>A
1 paper
NM_145239.3
p.A129insFs
c.387dupA
3 papers
NM_145239.3
p.A130delFs
c.388delG
4 papers
NM_145239.3
p.A130fs
c.388_389fs
1 paper
NM_145239.3
p.S124T
c.370T>A
1 paper
NM_145239.3
p.S124A
c.370T>G
1 paper
NM_145239.3
p.S124insFs
c.370_371insG
8 papers
NM_145239.3
p.S124fs
c.370_371fs
3 papers
NM_145239.3
p.A130V
c.389C>T
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