Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.L171fs

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
4 papers
NM_145239.3
p.L171fs
c.511_512fs
Surrounding Variants
1 paper
NM_145239.3
p.L171insFs
c.511_512insT
1 paper
NM_145239.3
p.L171L
c.511C>T
1 paper
NM_145239.3
p.L171_S172Fs
c.511_515delinsTFs
2 papers
NM_145239.3
p.L171P
c.512T>C
1 paper
NM_145239.3
p.I170T
c.509T>C
2 papers
NM_145239.3
p.L171delFs
c.511_512delCT
12 papers
NM_145239.3
p.I170_L171delFs
c.510_513del4
5 papers
NM_145239.3
p.I170insFs
c.510dupT
13 papers
NM_145239.3
p.S172fs
c.514_515fs
4 papers
NM_145239.3
p.S172_E173insFs
c.516_517insT
1 paper
NM_145239.3
p.S172C
c.515C>G
1 paper
NM_145239.3
p.E169D
c.507G>T
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