Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E180K

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.E180K
c.538G>A
Surrounding Variants
1 paper
NM_145239.3
p.E180G
c.539A>G
2 papers
NM_145239.3
p.Q179*
c.535C>T
2 papers
NM_145239.3
p.K178E
c.532A>G
1 paper
NM_145239.3
p.E177A
c.530A>C
3 papers
NM_145239.3
p.E177K
c.529G>A
5 papers
NM_145239.3
p.E177*
c.529G>T
1 paper
NM_145239.3
p.G176V
c.527G>T
1 paper
NM_145239.3
p.P186_L187del2
c.556_560del6
1 paper
NM_145239.3
p.S174R
c.522T>A
3 papers
NM_145239.3
p.S174R
c.522T>G
1 paper
NM_145239.3
p.S174R
c.520A>C
1 paper
NM_145239.3
p.P186L
c.557C>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."