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Gene: PPP2R2B & Disease: SCA12, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1712310	PPP2R2B	c.737C>A	p.Thr246Lys (p.T246K)	NM_181675.4 M	SNV	VUS	1 +	1
548555	PPP2R2B	c.119C>T	p.Ala40Val (p.A40V)	NM_181675.4 M	SNV	VUS	1 +	1
1712310	PPP2R2B	c.911C>A	p.Thr304Lys (p.T304K)	NM_001271900.2	SNV	VUS	1 +	1
	PPP2R2B	c.704C>A	p.Thr235Lys (p.T235K)	NM_001271948.2	SNV	VUS	1 +	1
	PPP2R2B	c.935C>A	p.Thr312Lys (p.T312K)	NM_181674.3	SNV	VUS	1 +	1
	PPP2R2B	c.746C>A	p.Thr249Lys (p.T249K)	NM_181676.3	SNV	VUS	1 +	1
	PPP2R2B	c.677C>A	p.Thr226Lys (p.T226K)	NM_181677.2	SNV	VUS	1 +	1
	PPP2R2B	c.704C>A	p.Thr235Lys (p.T235K)	NM_181678.2	SNV	VUS	1 +	1
	PPP2R2B	c.755C>A	p.Thr252Lys (p.T252K)	NM_001271899.1	SNV	VUS	1 +	1
548555	PPP2R2B	c.137C>T	p.Ala46Val (p.A46V)	NM_001271899.1	SNV	VUS	1 +	1
	PPP2R2B	c.293C>T	p.Ala98Val (p.A98V)	NM_001271900.2	SNV	VUS	1 +	1
	PPP2R2B	c.86C>T	p.Ala29Val (p.A29V)	NM_001271948.2	SNV	VUS	1 +	1
	PPP2R2B	c.317C>T	p.Ala106Val (p.A106V)	NM_181674.3	SNV	VUS	1 +	1
	PPP2R2B	c.128C>T	p.Ala43Val (p.A43V)	NM_181676.3	SNV	VUS	1 +	1
	PPP2R2B	c.59C>T	p.Ala20Val (p.A20V)	NM_181677.2	SNV	VUS	1 +	1
	PPP2R2B	c.86C>T	p.Ala29Val (p.A29V)	NM_181678.2	SNV	VUS	1 +	1

16 Results, 20 per Page

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