Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S79L

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
2 papers
NM_145239.3
p.S79L
c.236C>T
Surrounding Variants
1 paper
NM_145239.3
p.S79A
c.235T>G
1 paper
NM_145239.3
p.A78_S79insFs
c.234_235insAA
1 paper
NM_145239.3
p.E80G
c.239A>G
1 paper
NM_145239.3
p.E80D
c.240A>C
1 paper
NM_145239.3
p.E80D
c.240A>T
1 paper
NM_145239.3
p.A78S
c.232G>T
1 paper
NM_145239.3
p.A78fs
c.232_233fs
1 paper
NM_145239.3
p.G77G
c.231G>A
1 paper
NM_145239.3
p.T81I
c.242C>T
1 paper
NM_145239.3
p.A82T
c.244G>A
1 paper
NM_145239.3
p.A78insFs
c.232dupG
1 paper
NM_145239.3
p.P75P
c.225G>A
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