Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P161L

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.P161L
c.482C>T
Surrounding Variants
1 paper
NM_145239.3
p.T162S
c.484A>T
1 paper
NM_145239.3
p.L160F
c.478C>T
17 papers
NM_145239.3
p.Q163*
c.487C>T
1 paper
NM_145239.3
p.Q163delFs
c.489delG
2 papers
NM_145239.3
p.P158S
c.472C>T
2 papers
NM_145239.3
p.Q157*
c.469C>T
2 papers
NM_145239.3
p.L156R
c.467T>G
1 paper
NM_145239.3
p.P166P
c.498C>G
2 papers
NM_145239.3
p.P168delFs
c.503delC
1 paper
NM_145239.3
p.A155D
c.464C>A
3 papers
NM_145239.3
p.T167I
c.500C>T
3 papers
NM_145239.3
p.T167T
c.501C>T
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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."