Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S208Fs

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.S208Fs
c.623_624delinsAFs
Surrounding Variants
6 papers
NM_145239.3
p.S208Y
c.623C>A
1 paper
NM_145239.3
p.S208F
c.623C>T
1 paper
NM_145239.3
p.S208S
c.624C>T
1 paper
NM_145239.3
p.S208Fs
c.622delinsAAFs
2 papers
NM_145239.3
p.S208A
c.622T>G
19 papers
NM_145239.3
p.P210insFs
c.629dupC
2 papers
NM_145239.3
p.S208fs
c.622_623fs
9 papers
NM_145239.3
p.P210delFs
c.629delC
6 papers
NM_145239.3
p.S208fs
c.622_623fs
1 paper
NM_145239.3
p.K207_S208insFs
c.621_622insC
1 paper
NM_145239.3
p.K207N
c.621A>C
1 paper
NM_145239.3
p.K207N
c.621A>T
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