Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P58T

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.P58T
c.172C>A
Surrounding Variants
1 paper
NM_145239.3
p.P58insFs
c.173_174insA
2 papers
NM_145239.3
p.P58P
c.174T>A
1 paper
NM_145239.3
p.A57T
c.169G>A
1 paper
NM_145239.3
p.A57P
c.169G>C
1 paper
NM_145239.3
p.P58delFs
c.173delC
1 paper
NM_145239.3
p.A56A
c.168G>A
2 papers
NM_145239.3
p.V59G
c.176T>G
1 paper
NM_145239.3
p.A56E
c.167C>A
1 paper
NM_145239.3
p.A56V
c.167C>T
1 paper
NM_145239.3
p.D60A
c.179A>C
1 paper
NM_145239.3
p.T55A
c.163A>G
1 paper
NM_145239.3
p.T54P
c.160A>C
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