Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E173_S174insA

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.E173_S174insA
c.517_521ins3
Surrounding Variants
1 paper
NM_145239.3
p.E173insFs
c.517_518insT
6 papers
NM_145239.3
p.E173*
c.517G>T
1 paper
NM_145239.3
p.E173A
c.518A>C
4 papers
NM_145239.3
p.S172_E173insFs
c.516_517insT
1 paper
NM_145239.3
p.S172C
c.515C>G
1 paper
NM_145239.3
p.S174R
c.520A>C
13 papers
NM_145239.3
p.S172fs
c.514_515fs
1 paper
NM_145239.3
p.S174R
c.522T>A
2 papers
NM_145239.3
p.L171P
c.512T>C
3 papers
NM_145239.3
p.S174R
c.522T>G
1 paper
NM_145239.3
p.L171insFs
c.511_512insT
1 paper
NM_145239.3
p.L171L
c.511C>T
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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."