Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.G33S

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.G33S
c.97G>A
Surrounding Variants
1 paper
NM_145239.3
p.G33Fs
c.97_98delinsCFs
1 paper
NM_145239.3
p.G33delFs
c.99delC
1 paper
NM_145239.3
p.T32T
c.96T>A
2 papers
NM_145239.3
p.T32I
c.95C>T
1 paper
NM_145239.3
p.P34L
c.101C>T
1 paper
NM_145239.3
p.P35del1
c.103_105delCCC
1 paper
NM_145239.3
p.P35S
c.103C>T
2 papers
NM_145239.3
p.A30P
c.88G>C
1 paper
NM_145239.3
p.E29A
c.86A>C
1 paper
NM_145239.3
p.Q36H
c.108G>C
1 paper
NM_145239.3
p.Q36H
c.108G>T
1 paper
NM_145239.3
p.S28S
c.84T>A
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