Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.H232H

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.H232H
c.696C>T
Surrounding Variants
5 papers
NM_145239.3
p.S233delFs
c.697_698delAG
3 papers
NM_145239.3
p.S233fs
c.697_698fs
1 paper
NM_145239.3
p.H232Y
c.694C>T
4 papers
NM_145239.3
p.H232fs
c.694_695fs
1 paper
NM_145239.3
p.S233N
c.698G>A
2 papers
NM_145239.3
p.H232insFs
c.694dupC
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
1 paper
NM_145239.3
p.H232_S233delFs
c.696_697delCA
1 paper
NM_145239.3
p.H235Y
c.703C>T
1 paper
NM_145239.3
p.R230G
c.688A>G
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