Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T85S

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.T85S
c.253A>T
Surrounding Variants
1 paper
NM_145239.3
p.T85fs
c.253_254fs
1 paper
NM_145239.3
p.D86delFs
c.256delG
1 paper
NM_145239.3
p.A84G
c.251C>G
1 paper
NM_145239.3
p.A84T
c.250G>A
1 paper
NM_145239.3
p.D86N
c.256G>A
1 paper
NM_145239.3
p.A84delFs
c.252delC
2 papers
NM_145239.3
p.D86A
c.257A>C
1 paper
NM_145239.3
p.Q83H
c.249G>T
1 paper
NM_145239.3
p.A84_S88delFs
c.252_264del13
1 paper
NM_145239.3
p.A82T
c.244G>A
1 paper
NM_145239.3
p.T81I
c.242C>T
1 paper
NM_145239.3
p.E80D
c.240A>C
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