Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T151A

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.T151A
c.451A>G
Surrounding Variants
2 papers
NM_145239.3
p.P152delFs
c.456delC
1 paper
NM_145239.3
p.T151N
c.452C>A
2 papers
NM_145239.3
p.P150P
c.450T>A
2 papers
NM_145239.3
p.P152S
c.454C>T
1 paper
NM_145239.3
p.P150S
c.448C>T
1 paper
NM_145239.3
p.P152L
c.455C>T
2 papers
NM_145239.3
p.K153insFs
c.458dupA
1 paper
NM_145239.3
p.K153delFs
c.457_458delAA
2 papers
NM_145239.3
p.K153fs
c.457_458fs
1 paper
NM_145239.3
p.K153fs
c.457_458fs
1 paper
NM_145239.3
p.Q149K
c.445C>A
1 paper
NM_145239.3
p.K153R
c.458A>G
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