Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S9S

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.S9S
c.27T>A
Surrounding Variants
2 papers
NM_145239.3
p.S9insFs
c.27dupT
2 papers
NM_145239.3
p.S9F
c.26C>T
1 paper
NM_145239.3
p.E10*
c.28G>T
1 paper
NM_145239.3
p.E10D
c.30G>C
1 paper
NM_145239.3
p.M11L
c.31A>C
1 paper
NM_145239.3
p.I8N
c.23T>A
1 paper
NM_145239.3
p.I8V
c.22A>G
1 paper
NM_145239.3
p.M11T
c.32T>C
1 paper
NM_145239.3
p.E7insFs
c.21dupG
1 paper
NM_145239.3
p.K12*
c.34A>T
1 paper
NM_145239.3
p.K12R
c.35A>G
1 paper
NM_145239.3
p.E7K
c.19G>A
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