Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S297N

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.S297N
c.890G>A
Surrounding Variants
1 paper
NM_145239.3
p.S297T
c.890G>C
1 paper
NM_145239.3
p.N296S
c.887A>G
1 paper
NM_145239.3
p.L298Q
c.893T>A
4 papers
NM_145239.3
p.L298P
c.893T>C
1 paper
NM_145239.3
p.N296fs
c.886_887fs
1 paper
NM_145239.3
p.L298L
c.894G>T
1 paper
NM_145239.3
p.Q299K
c.895C>A
1 paper
NM_145239.3
p.Q299P
c.896A>C
1 paper
NM_145239.3
p.Q299_D304delFs
c.897_912del16
10 papers
NM_145239.3
p.R295Q
c.884G>A
1 paper
NM_145239.3
p.R295P
c.884G>C
1 paper
NM_145239.3
p.R295insFs
c.883_884ins4
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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."