Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.C99S

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.C99S
c.295T>A
Surrounding Variants
1 paper
NM_145239.3
p.N98S
c.293A>G
4 papers
NM_145239.3
p.S100C
c.298A>T
6 papers
NM_145239.3
p.N98fs
c.292_293fs
1 paper
NM_145239.3
p.S100T
c.299G>C
1 paper
NM_145239.3
p.P101delFs
c.303delC
1 paper
NM_145239.3
p.A97V
c.290C>T
1 paper
NM_145239.3
p.A97T
c.289G>A
11 papers
NM_145239.3
p.A97delFs
c.291delC
1 paper
NM_145239.3
p.P101L
c.302C>T
11 papers
NM_145239.3
p.K96M
c.287A>T
1 paper
NM_145239.3
p.A97delFs
c.289delG
1 paper
NM_145239.3
p.K96E
c.286A>G
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