Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T81I

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.T81I
c.242C>T
Surrounding Variants
1 paper
NM_145239.3
p.E80D
c.240A>C
1 paper
NM_145239.3
p.E80D
c.240A>T
1 paper
NM_145239.3
p.A82T
c.244G>A
1 paper
NM_145239.3
p.E80G
c.239A>G
2 papers
NM_145239.3
p.S79L
c.236C>T
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.S79A
c.235T>G
1 paper
NM_145239.3
p.A78_S79insFs
c.234_235insAA
1 paper
NM_145239.3
p.A84T
c.250G>A
1 paper
NM_145239.3
p.A84delFs
c.252delC
1 paper
NM_145239.3
p.A84G
c.251C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."