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Gene: MAP2K2 & Disease: CFC1, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
177868	MAP2K2	c.401A>G	p.Tyr134Cys (p.Y134C)	NM_030662.4 M	SNV	P	4 +	7
8274	MAP2K2	c.400T>C	p.Tyr134His (p.Y134H)	NM_030662.4 M	SNV	P	4 +	6
8272	MAP2K2	c.170T>G	p.Phe57Cys (p.F57C)	NM_030662.4 M	SNV	P	2 +	3
40769	MAP2K2	c.181A>G	p.Lys61Glu (p.K61E)	NM_030662.4 M	SNV	P	3 +	3
8273	MAP2K2	c.169T>G	p.Phe57Val (p.F57V)	NM_030662.4 M	SNV	P	6 +	2
8275	MAP2K2	c.383C>A	p.Pro128Gln (p.P128Q)	NM_030662.4 M	SNV	P	2 +	2
376176	MAP2K2	c.376A>G	p.Asn126Asp (p.N126D)	NM_030662.4 M	SNV	P	4 +	2
666425	MAP2K2	c.811G>A	p.Asp271Asn (p.D271N)	NM_030662.4 M	SNV	LB	2 +	1
40813	MAP2K2	c.619G>A	p.Glu207Lys (p.E207K)	NM_030662.4 M	SNV	P	4 +	1
666424	MAP2K2	c.187_192del	p.Lys63_Val64del	NM_030662.4 M	Del	LP	1 +	0

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