Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.A214insFs

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.A214insFs
c.640_641insCC
Surrounding Variants
19 papers
NM_145239.3
p.A214P
c.640G>C
3 papers
NM_145239.3
p.A214Fs
c.640delinsCCFs
308 papers
NM_145239.3
p.R217insFs
c.649dupC
8 papers
NM_145239.3
p.A214fs
c.640_641fs
76 papers
NM_145239.3
p.R217delFs
c.649delC
5 papers
NM_145239.3
p.A214fs
c.640_641fs
1 paper
NM_145239.3
p.P216del1
c.646_647delCCC
1 paper
NM_145239.3
p.P215_P216del2
c.643_647del6
1 paper
NM_145239.3
p.A214G
c.641C>G
3 papers
NM_145239.3
p.G213_A214insFs
c.639_640insC
2 papers
NM_145239.3
p.P215T
c.643C>A
1 paper
NM_145239.3
p.G213R
c.637G>A
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