Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
6 papers
NM_145239.3
p.M1insFs
c.2dupT
1 paper
NM_145239.3
p.M1L
c.1A>C
1 paper
NM_145239.3
p.M1V
c.1A>G
1 paper
NM_145239.3
p.M1L
c.1A>T
3 papers
NM_145239.3
p.M1I
c.3G>A
1 paper
NM_145239.3
p.M1I
c.3G>C
1 paper
NM_145239.3
p.M1_A2insFs
c.3_4insT
1 paper
NM_145239.3
p.M1I
c.3G>T
2 papers
NM_145239.3
p.A2T
c.4G>A
1 paper
NM_145239.3
p.M1insFs
c.1dupA
1 paper
NM_145239.3
p.M1_S6del0
c.1_18del18
1 paper
NM_145239.3
p.A2E
c.5C>A
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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."