Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P104P

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.P104P
c.312A>T
Surrounding Variants
3 papers
NM_145239.3
p.P104L
c.311C>T
1 paper
NM_145239.3
p.C105S
c.313T>A
2 papers
NM_145239.3
p.C105S
c.314G>C
1 paper
NM_145239.3
p.C105*
c.315C>A
1 paper
NM_145239.3
p.Q106delFs
c.318delA
3 papers
NM_145239.3
p.Q106R
c.317A>G
6 papers
NM_145239.3
p.E102D
c.306A>T
1 paper
NM_145239.3
p.D103_C105del3
c.307_314del9
1 paper
NM_145239.3
p.E102V
c.305A>T
2 papers
NM_145239.3
p.T108delFs
c.322delA
3 papers
NM_145239.3
p.T108_P112delFs
c.324_334del11
1 paper
NM_145239.3
p.E107G
c.320A>G
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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."