Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S249P

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.S249P
c.745T>C
Surrounding Variants
2 papers
NM_145239.3
p.S249C
c.746C>G
1 paper
NM_145239.3
p.S249F
c.746C>T
1 paper
NM_145239.3
p.S248N
c.743G>A
1 paper
NM_145239.3
p.S248T
c.743G>C
1 paper
NM_145239.3
p.S248fs
c.742_743fs
6 papers
NM_145239.3
p.S248fs
c.742_743fs
11 papers
NM_145239.3
p.Q250*
c.748C>T
1 paper
NM_145239.3
p.L251L
c.751T>C
1 paper
NM_145239.3
p.L251S
c.752T>C
2 papers
NM_145239.3
p.P247delFs
c.741delC
1 paper
NM_145239.3
p.A252_K264del13
c.754_791del39
2 papers
NM_145239.3
p.R245H
c.734G>A
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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."