Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S148T

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.S148T
c.442T>A
Surrounding Variants
1 paper
NM_145239.3
p.S148A
c.442T>G
1 paper
NM_145239.3
p.Q149K
c.445C>A
20 papers
NM_145239.3
p.D147H
c.439G>C
3 papers
NM_145239.3
p.P146S
c.436C>T
1 paper
NM_145239.3
p.P150S
c.448C>T
1 paper
NM_145239.3
p.R145R
c.435G>A
5 papers
NM_145239.3
p.R145Q
c.434G>A
2 papers
NM_145239.3
p.P150P
c.450T>A
1 paper
NM_145239.3
p.T151A
c.451A>G
2 papers
NM_145239.3
p.P152delFs
c.456delC
1 paper
NM_145239.3
p.R145fs
c.433_434fs
5 papers
NM_145239.3
p.R145G
c.433C>G
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