Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P279A

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.P279A
c.835C>G
Surrounding Variants
2 papers
NM_145239.3
p.P279S
c.835C>T
5 papers
NM_145239.3
p.P279L
c.836C>T
1 paper
NM_145239.3
p.C278C
c.834C>T
1 paper
NM_145239.3
p.P279_M280insFs
c.837_838insC
2 papers
NM_145239.3
p.C278F
c.833G>T
1 paper
NM_145239.3
p.M280fs
c.838_839fs
1 paper
NM_145239.3
p.M280R
c.839T>G
16 papers
NM_145239.3
p.W281R
c.841T>A
18 papers
NM_145239.3
p.W281R
c.841T>C
1 paper
NM_145239.3
p.F277L
c.829T>C
1 paper
NM_145239.3
p.W281C
c.843G>C
1 paper
NM_145239.3
p.W281C
c.843G>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."