Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P198T

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
2 papers
NM_145239.3
p.P198T
c.592C>A
Surrounding Variants
1 paper
NM_145239.3
p.P198insFs
c.592_593insA
2 papers
NM_145239.3
p.P198delFs
c.593_594delCT
1 paper
NM_145239.3
p.P198fs
c.592_593fs
1 paper
NM_145239.3
p.E199insFs
c.595dupG
2 papers
NM_145239.3
p.E199K
c.595G>A
1 paper
NM_145239.3
p.A197T
c.589G>A
6 papers
NM_145239.3
p.E199*
c.595G>T
1 paper
NM_145239.3
p.E199fs
c.595_596fs
1 paper
NM_145239.3
p.A197fs
c.589_590fs
1 paper
NM_145239.3
p.E199G
c.596A>G
1 paper
NM_145239.3
p.E199D
c.597G>C
1 paper
NM_145239.3
p.P196fs
c.586_587fs
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