Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E94insFs

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.E94insFs
c.282dupA
Surrounding Variants
1 paper
NM_145239.3
p.E94*
c.280G>T
1 paper
NM_145239.3
p.E94V
c.281A>T
3 papers
NM_145239.3
p.G93A
c.278G>C
1 paper
NM_145239.3
p.G93V
c.278G>T
1 paper
NM_145239.3
p.S95fs
c.283_284fs
2 papers
NM_145239.3
p.S95*
c.284C>A
1 paper
NM_145239.3
p.S95insFs
c.284_285insT
3 papers
NM_145239.3
p.S95*
c.284C>G
1 paper
NM_145239.3
p.S95L
c.284C>T
1 paper
NM_145239.3
p.G92E
c.275G>A
1 paper
NM_145239.3
p.K96E
c.286A>G
11 papers
NM_145239.3
p.K96M
c.287A>T
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