Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E169G

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.E169G
c.506A>G
Surrounding Variants
1 paper
NM_145239.3
p.E169V
c.506A>T
1 paper
NM_145239.3
p.E169K
c.505G>A
1 paper
NM_145239.3
p.E169D
c.507G>T
5 papers
NM_145239.3
p.I170insFs
c.510dupT
1 paper
NM_145239.3
p.P168P
c.504T>A
2 papers
NM_145239.3
p.P168H
c.503C>A
1 paper
NM_145239.3
p.I170T
c.509T>C
2 papers
NM_145239.3
p.L171delFs
c.511_512delCT
12 papers
NM_145239.3
p.I170_L171delFs
c.510_513del4
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
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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."