Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P186_L187del2

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.P186_L187del2
c.556_560del6
Surrounding Variants
1 paper
NM_145239.3
p.P186L
c.557C>T
2 papers
NM_145239.3
p.L187insFs
c.560dupT
1 paper
NM_145239.3
p.L187Q
c.560T>A
1 paper
NM_145239.3
p.Q188K
c.562C>A
8 papers
NM_145239.3
p.Q188*
c.562C>T
1 paper
NM_145239.3
p.Q188fs
c.562_563fs
1 paper
NM_145239.3
p.A189delFs
c.565delG
2 papers
NM_145239.3
p.A189T
c.565G>A
1 paper
NM_145239.3
p.A189S
c.565G>T
1 paper
NM_145239.3
p.A189V
c.566C>T
1 paper
NM_145239.3
p.E180G
c.539A>G
1 paper
NM_145239.3
p.A189_G190insFs
c.567_568ins4
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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."