Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R245C

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.R245C
c.733C>T
Surrounding Variants
2 papers
NM_145239.3
p.R245S
c.733C>A
2 papers
NM_145239.3
p.R245H
c.734G>A
1 paper
NM_145239.3
p.R245L
c.734G>T
2 papers
NM_145239.3
p.P247delFs
c.741delC
1 paper
NM_145239.3
p.S248fs
c.742_743fs
1 paper
NM_145239.3
p.S242insFs
c.724_725insTC
6 papers
NM_145239.3
p.S248fs
c.742_743fs
1 paper
NM_145239.3
p.S242fs
c.724_725fs
2 papers
NM_145239.3
p.S242_S244delFs
c.725_731del7
1 paper
NM_145239.3
p.S248N
c.743G>A
1 paper
NM_145239.3
p.S248T
c.743G>C
1 paper
NM_145239.3
p.G241A
c.722G>C
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