Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P48S

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.P48S
c.142C>T
Surrounding Variants
1 paper
NM_145239.3
p.P48R
c.143C>G
1 paper
NM_145239.3
p.P48L
c.143C>T
2 papers
NM_145239.3
p.A47V
c.140C>T
1 paper
NM_145239.3
p.E46D
c.138G>C
1 paper
NM_145239.3
p.P50S
c.148C>T
1 paper
NM_145239.3
p.E46K
c.136G>A
1 paper
NM_145239.3
p.P45S
c.133C>T
6 papers
NM_145239.3
p.P45fs
c.133_134fs
1 paper
NM_145239.3
p.G51D
c.152G>A
1 paper
NM_145239.3
p.Q44L
c.131A>T
1 paper
NM_145239.3
p.D43D
c.129C>T
1 paper
NM_145239.3
p.D43G
c.128A>G
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