Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E193fs

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.E193fs
c.577_578fs
Surrounding Variants
2 papers
NM_145239.3
p.E193K
c.577G>A
8 papers
NM_145239.3
p.E193insFs
c.579dupA
1 paper
NM_145239.3
p.E193*
c.577G>T
1 paper
NM_145239.3
p.G192A
c.575G>C
1 paper
NM_145239.3
p.E194insFs
c.580_581insA
1 paper
NM_145239.3
p.G192insFs
c.574_575insT
1 paper
NM_145239.3
p.G192W
c.574G>T
6 papers
NM_145239.3
p.E194fs
c.580_581fs
5 papers
NM_145239.3
p.G192fs
c.574_575fs
1 paper
NM_145239.3
p.G195insFs
c.583_584dupGG
1 paper
NM_145239.3
p.E194V
c.581A>T
1 paper
NM_145239.3
p.D191E
c.573T>A
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