Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.K207delFs

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.K207delFs
c.620_621delAA
Surrounding Variants
6 papers
NM_145239.3
p.S205insFs
c.615dupA
2 papers
NM_145239.3
p.K206delFs
c.618delA
1 paper
NM_145239.3
p.K207del1
c.619_620delAAA
1 paper
NM_145239.3
p.S205T
c.613T>A
1 paper
NM_145239.3
p.S205A
c.613T>G
2 papers
NM_145239.3
p.K206Q
c.616A>C
1 paper
NM_145239.3
p.P204R
c.611C>G
1 paper
NM_145239.3
p.K207R
c.620A>G
1 paper
NM_145239.3
p.K207I
c.620A>T
1 paper
NM_145239.3
p.P203Q
c.608C>A
1 paper
NM_145239.3
p.K207_S208insFs
c.621_622insC
1 paper
NM_145239.3
p.K207N
c.621A>C
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