Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.D103_C105del3

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.D103_C105del3
c.307_314del9
Surrounding Variants
6 papers
NM_145239.3
p.E102D
c.306A>T
1 paper
NM_145239.3
p.E102V
c.305A>T
1 paper
NM_145239.3
p.E102Q
c.304G>C
1 paper
NM_145239.3
p.E102*
c.304G>T
1 paper
NM_145239.3
p.P101L
c.302C>T
3 papers
NM_145239.3
p.P104L
c.311C>T
1 paper
NM_145239.3
p.P104P
c.312A>T
1 paper
NM_145239.3
p.S100T
c.299G>C
1 paper
NM_145239.3
p.P101delFs
c.303delC
1 paper
NM_145239.3
p.C105S
c.313T>A
4 papers
NM_145239.3
p.S100C
c.298A>T
2 papers
NM_145239.3
p.C105S
c.314G>C
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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."