Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.G123fs

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.G123fs
c.367_368fs
Surrounding Variants
2 papers
NM_145239.3
p.G123R
c.367G>A
2 papers
NM_145239.3
p.G123R
c.367G>C
2 papers
NM_145239.3
p.G123E
c.368G>A
1 paper
NM_145239.3
p.G123A
c.368G>C
4 papers
NM_145239.3
p.G123insFs
c.369dupG
1 paper
NM_145239.3
p.G123G
c.369G>C
1 paper
NM_145239.3
p.Q122K
c.364C>A
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
1 paper
NM_145239.3
p.D121G
c.362A>G
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