Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: ITGA6 & Disease: JEB, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1047995	ITGA6	c.1286C>A	p.Ser429Ter (p.S429X)	NM_000210.4 M	SNV	P	1 +	1
	ITGA6	c.1286C>A	p.Ser429Ter (p.S429X)	NM_001079818.3	SNV	P	1 +	1
	ITGA6	c.929C>A	p.Ser310Ter (p.S310X)	NM_001316306.2	SNV	P	1 +	1
	ITGA6	c.1286C>A	p.Ser429Ter (p.S429X)	NM_001365529.2	SNV	P	1 +	1
	ITGA6	c.1286C>A	p.Ser429Ter (p.S429X)	NM_001365530.2	SNV	P	1 +	1

5 Results, 20 per Page

1

Comparison

Back to top