Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q307insFs

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.Q307insFs
c.919_920insC
Surrounding Variants
13 papers
NM_145239.3
p.A306T
c.916G>A
2 papers
NM_145239.3
p.A306P
c.916G>C
1 paper
NM_145239.3
p.A306fs
c.916_917fs
8 papers
NM_145239.3
p.A306D
c.917C>A
1 paper
NM_145239.3
p.G305E
c.914G>A
1 paper
NM_145239.3
p.G305A
c.914G>C
1 paper
NM_145239.3
p.G305_R311delins
c.914_931delinsAGACGC
1 paper
NM_145239.3
p.G305_R311Fs
c.914_931delinsAGACGCTFs
1 paper
NM_145239.3
p.A306_A313delFs
c.916_937del22
4 papers
NM_145239.3
p.Q307*
c.919C>T
26 papers
NM_145239.3
p.G305R
c.913G>A
20 papers
NM_145239.3
p.G305R
c.913G>C
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