Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.G241S

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.G241S
c.721G>A
Surrounding Variants
1 paper
NM_145239.3
p.G241delFs
c.721delG
1 paper
NM_145239.3
p.G241A
c.722G>C
1 paper
NM_145239.3
p.G241V
c.722G>T
2 papers
NM_145239.3
p.R240Q
c.719G>A
1 paper
NM_145239.3
p.R240P
c.719G>C
1 paper
NM_145239.3
p.S242insFs
c.724_725insTC
1 paper
NM_145239.3
p.S242fs
c.724_725fs
2 papers
NM_145239.3
p.S242_S244delFs
c.725_731del7
22 papers
NM_145239.3
p.R240*
c.718C>T
1 paper
NM_145239.3
p.P239S
c.715C>T
1 paper
NM_145239.3
p.P239insFs
c.715_716dupCC
2 papers
NM_145239.3
p.R245S
c.733C>A
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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."