Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T108delFs

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
2 papers
NM_145239.3
p.T108delFs
c.322delA
Surrounding Variants
3 papers
NM_145239.3
p.T108_P112delFs
c.324_334del11
1 paper
NM_145239.3
p.E107G
c.320A>G
3 papers
NM_145239.3
p.Q106R
c.317A>G
4 papers
NM_145239.3
p.T108delFs
c.323_324delCA
1 paper
NM_145239.3
p.T108ins1
c.322_323insGAC
4 papers
NM_145239.3
p.T108fs
c.322_323fs
1 paper
NM_145239.3
p.Q106delFs
c.318delA
1 paper
NM_145239.3
p.C105*
c.315C>A
1 paper
NM_145239.3
p.T108K
c.323C>A
2 papers
NM_145239.3
p.T108insFs
c.324dupA
1 paper
NM_145239.3
p.T108_V109delFs
c.324_325delAG
2 papers
NM_145239.3
p.C105S
c.314G>C
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