Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.L222P

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.L222P
c.665T>C
Surrounding Variants
1 paper
NM_145239.3
p.L222R
c.665T>G
1 paper
NM_145239.3
p.V223_E225delFs
c.667_673del7
1 paper
NM_145239.3
p.L222M
c.664C>A
1 paper
NM_145239.3
p.L222_V223ins2
c.666_667ins6
1 paper
NM_145239.3
p.V223I
c.667G>A
1 paper
NM_145239.3
p.V223_D226Fs
c.667_676delinsATTGAFs
1 paper
NM_145239.3
p.V223G
c.668T>G
1 paper
NM_145239.3
p.E224delins
c.670delinsCAATGGTGCCACCACTGGGTTA
2 papers
NM_145239.3
p.E224insFs
c.672dupG
1 paper
NM_145239.3
p.E224A
c.671A>C
1 paper
NM_145239.3
p.E224delFs
c.672delG
1 paper
NM_145239.3
p.V218fs
c.652_653fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."