Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R308G

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
3 papers
NM_145239.3
p.R308G
c.922C>G
Surrounding Variants
15 papers
NM_145239.3
p.R308C
c.922C>T
4 papers
NM_145239.3
p.Q307*
c.919C>T
1 paper
NM_145239.3
p.L309P
c.926T>C
8 papers
NM_145239.3
p.A306D
c.917C>A
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.Q307insFs
c.919_920insC
1 paper
NM_145239.3
p.A306fs
c.916_917fs
1 paper
NM_145239.3
p.G310V
c.929G>T
1 paper
NM_145239.3
p.R311Fs
c.931delinsAGACGCFs
1 paper
NM_145239.3
p.R311_V312delFs
c.931_935del5
1 paper
NM_145239.3
p.G305E
c.914G>A
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