Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.L156R

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.L156R
c.467T>G
Surrounding Variants
2 papers
NM_145239.3
p.Q157*
c.469C>T
1 paper
NM_145239.3
p.A155D
c.464C>A
1 paper
NM_145239.3
p.A155T
c.463G>A
2 papers
NM_145239.3
p.P158S
c.472C>T
1 paper
NM_145239.3
p.P154S
c.460C>T
1 paper
NM_145239.3
p.K153R
c.458A>G
1 paper
NM_145239.3
p.K153M
c.458A>T
2 papers
NM_145239.3
p.K153fs
c.457_458fs
1 paper
NM_145239.3
p.K153fs
c.457_458fs
2 papers
NM_145239.3
p.K153insFs
c.458dupA
1 paper
NM_145239.3
p.L160F
c.478C>T
1 paper
NM_145239.3
p.K153delFs
c.457_458delAA
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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."