Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.D302insFs

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
9 papers
NM_145239.3
p.D302insFs
c.904_905insG
Surrounding Variants
6 papers
NM_145239.3
p.G301R
c.901G>A
6 papers
NM_145239.3
p.G301R
c.901G>C
1 paper
NM_145239.3
p.Q299P
c.896A>C
1 paper
NM_145239.3
p.Q299_D304delFs
c.897_912del16
1 paper
NM_145239.3
p.G301E
c.902G>A
1 paper
NM_145239.3
p.G301A
c.902G>C
1 paper
NM_145239.3
p.Q299K
c.895C>A
1 paper
NM_145239.3
p.D302H
c.904G>C
1 paper
NM_145239.3
p.L298L
c.894G>T
7 papers
NM_145239.3
p.D302fs
c.904_905fs
2 papers
NM_145239.3
p.D302insFs
c.905_906insG
1 paper
NM_145239.3
p.L298Q
c.893T>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."