Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S248fs

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.S248fs
c.742_743fs
Surrounding Variants
6 papers
NM_145239.3
p.S248fs
c.742_743fs
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.S249P
c.745T>C
2 papers
NM_145239.3
p.S249C
c.746C>G
1 paper
NM_145239.3
p.S249F
c.746C>T
2 papers
NM_145239.3
p.P247delFs
c.741delC
11 papers
NM_145239.3
p.Q250*
c.748C>T
2 papers
NM_145239.3
p.R245H
c.734G>A
1 paper
NM_145239.3
p.R245L
c.734G>T
2 papers
NM_145239.3
p.R245S
c.733C>A
1 paper
NM_145239.3
p.R245C
c.733C>T
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