Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S5delFs

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.S5delFs
c.15delC
Surrounding Variants
2 papers
NM_145239.3
p.S5N
c.14G>A
2 papers
NM_145239.3
p.S6S
c.18T>A
1 paper
NM_145239.3
p.S6S
c.18T>C
1 paper
NM_145239.3
p.E7K
c.19G>A
1 paper
NM_145239.3
p.E7Q
c.19G>C
1 paper
NM_145239.3
p.E7insFs
c.21dupG
1 paper
NM_145239.3
p.A3G
c.8C>G
1 paper
NM_145239.3
p.A3P
c.7G>C
1 paper
NM_145239.3
p.A3insFs
c.7_8insA
1 paper
NM_145239.3
p.A3_S4insT
c.7_11ins3
2 papers
NM_145239.3
p.A3S
c.7G>T
1 paper
NM_145239.3
p.I8V
c.22A>G
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