Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P91T

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.P91T
c.271C>A
Surrounding Variants
1 paper
NM_145239.3
p.P91S
c.271C>T
5 papers
NM_145239.3
p.P91fs
c.271_272fs
1 paper
NM_145239.3
p.S90R
c.270C>A
1 paper
NM_145239.3
p.S90R
c.270C>G
1 paper
NM_145239.3
p.S90N
c.269G>A
5 papers
NM_145239.3
p.P91delFs
c.272delC
1 paper
NM_145239.3
p.S90R
c.268A>C
1 paper
NM_145239.3
p.G92E
c.275G>A
1 paper
NM_145239.3
p.L89*
c.266T>A
3 papers
NM_145239.3
p.G93A
c.278G>C
1 paper
NM_145239.3
p.G93V
c.278G>T
1 paper
NM_145239.3
p.E94insFs
c.282dupA
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