Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P138A

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
21 papers
NM_145239.3
p.P138A
c.412C>G
Surrounding Variants
1 paper
NM_145239.3
p.P138T
c.412C>A
1 paper
NM_145239.3
p.P138fs
c.412_413fs
2 papers
NM_145239.3
p.P138R
c.413C>G
1 paper
NM_145239.3
p.E137_P138insFs
c.411_412insC
1 paper
NM_145239.3
p.A139T
c.415G>A
1 paper
NM_145239.3
p.A139P
c.415G>C
1 paper
NM_145239.3
p.P136P
c.408A>T
1 paper
NM_145239.3
p.P136L
c.407C>T
1 paper
NM_145239.3
p.P140A
c.418C>G
1 paper
NM_145239.3
p.A135P
c.403G>C
1 paper
NM_145239.3
p.P142L
c.425C>T
1 paper
NM_145239.3
p.E133K
c.397G>A
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