Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T167T

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
3 papers
NM_145239.3
p.T167T
c.501C>T
Surrounding Variants
3 papers
NM_145239.3
p.T167I
c.500C>T
1 paper
NM_145239.3
p.P168S
c.502C>T
4 papers
NM_145239.3
p.P168delFs
c.503_504delCT
2 papers
NM_145239.3
p.P168fs
c.502_503fs
2 papers
NM_145239.3
p.P168delFs
c.503delC
2 papers
NM_145239.3
p.P168H
c.503C>A
1 paper
NM_145239.3
p.P166P
c.498C>G
1 paper
NM_145239.3
p.P168P
c.504T>A
1 paper
NM_145239.3
p.E169K
c.505G>A
1 paper
NM_145239.3
p.E169G
c.506A>G
1 paper
NM_145239.3
p.E169V
c.506A>T
1 paper
NM_145239.3
p.E169D
c.507G>T
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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."