Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.H235delFs

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.H235delFs
c.705delT
Surrounding Variants
1 paper
NM_145239.3
p.H235R
c.704A>G
1 paper
NM_145239.3
p.H235Y
c.703C>T
1 paper
NM_145239.3
p.P236A
c.706C>G
1 paper
NM_145239.3
p.G234R
c.700G>A
1 paper
NM_145239.3
p.G234R
c.700G>C
1 paper
NM_145239.3
p.G234_H235insAA
c.700_704ins6
5 papers
NM_145239.3
p.G237R
c.709G>A
6 papers
NM_145239.3
p.G237R
c.709G>C
1 paper
NM_145239.3
p.S233N
c.698G>A
3 papers
NM_145239.3
p.S233fs
c.697_698fs
1 paper
NM_145239.3
p.H232H
c.696C>T
5 papers
NM_145239.3
p.S233delFs
c.697_698delAG
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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."