Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.V41L

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.V41L
c.121G>T
Surrounding Variants
1 paper
NM_145239.3
p.V41L
c.121G>C
5 papers
NM_145239.3
p.V41fs
c.121_122fs
3 papers
NM_145239.3
p.V41delFs
c.121_122delGT
1 paper
NM_145239.3
p.V41E
c.122T>A
1 paper
NM_145239.3
p.V41V
c.123A>T
1 paper
NM_145239.3
p.P42A
c.124C>G
1 paper
NM_145239.3
p.P42fs
c.124_125fs
3 papers
NM_145239.3
p.G40R
c.118G>A
1 paper
NM_145239.3
p.G40R
c.118G>C
1 paper
NM_145239.3
p.G40_V41insFs
c.119_122dup4
1 paper
NM_145239.3
p.G40fs
c.118_119fs
1 paper
NM_145239.3
p.A39V
c.116C>T
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