Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.A313V

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.A313V
c.938C>T
Surrounding Variants
1 paper
NM_145239.3
p.A313D
c.938C>A
2 papers
NM_145239.3
p.A313T
c.937G>A
1 paper
NM_145239.3
p.V312A
c.935T>C
1 paper
NM_145239.3
p.V312fs
c.934_935fs
2 papers
NM_145239.3
p.R311Q
c.932G>A
1 paper
NM_145239.3
p.R311L
c.932G>T
1 paper
NM_145239.3
p.R311delins
c.931delinsAGACGCT
8 papers
NM_145239.3
p.R311W
c.931C>T
1 paper
NM_145239.3
p.V312delFs
c.934delG
1 paper
NM_145239.3
p.R311Fs
c.931delinsAGACGCFs
1 paper
NM_145239.3
p.R311_V312delFs
c.931_935del5
1 paper
NM_145239.3
p.G310V
c.929G>T
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