Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E70K

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.E70K
c.208G>A
Surrounding Variants
1 paper
NM_145239.3
p.E70_T71delFs
c.210_211delAA
2 papers
NM_145239.3
p.E70A
c.209A>C
2 papers
NM_145239.3
p.T72delFs
c.215_216delCA
1 paper
NM_145239.3
p.A68A
c.204T>A
1 paper
NM_145239.3
p.A68V
c.203C>T
1 paper
NM_145239.3
p.T72A
c.214A>G
2 papers
NM_145239.3
p.T72fs
c.214_215fs
1 paper
NM_145239.3
p.A68T
c.202G>A
1 paper
NM_145239.3
p.T72_E73insFs
c.216_217insA
1 paper
NM_145239.3
p.A68_E70del3
c.202_209del9
1 paper
NM_145239.3
p.E73K
c.217G>A
1 paper
NM_145239.3
p.E73Q
c.217G>C
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