Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E29A

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.E29A
c.86A>C
Surrounding Variants
2 papers
NM_145239.3
p.A30P
c.88G>C
1 paper
NM_145239.3
p.S28S
c.84T>A
1 paper
NM_145239.3
p.H27D
c.79C>G
1 paper
NM_145239.3
p.H27delins
c.79_80delinsTT
2 papers
NM_145239.3
p.T32I
c.95C>T
1 paper
NM_145239.3
p.G26D
c.77G>A
1 paper
NM_145239.3
p.G26A
c.77G>C
1 paper
NM_145239.3
p.T32T
c.96T>A
1 paper
NM_145239.3
p.G33S
c.97G>A
1 paper
NM_145239.3
p.G33Fs
c.97_98delinsCFs
1 paper
NM_145239.3
p.P25L
c.74C>T
1 paper
NM_145239.3
p.G33delFs
c.99delC
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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."