Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S275S

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.S275S
c.825C>T
Surrounding Variants
1 paper
NM_145239.3
p.S275_C276insFs
c.825_826insA
11 papers
NM_145239.3
p.S275F
c.824C>T
1 paper
NM_145239.3
p.S275P
c.823T>C
1 paper
NM_145239.3
p.L274L
c.822G>C
1 paper
NM_145239.3
p.L274P
c.821T>C
1 paper
NM_145239.3
p.F277L
c.829T>C
2 papers
NM_145239.3
p.I273I
c.819C>T
1 paper
NM_145239.3
p.P279_M280insFs
c.837_838insC
2 papers
NM_145239.3
p.C278F
c.833G>T
1 paper
NM_145239.3
p.C278C
c.834C>T
1 paper
NM_145239.3
p.A272D
c.815C>A
1 paper
NM_145239.3
p.P279A
c.835C>G
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