Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: KRT5 & Disease: EBS1C, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
21174	KRT5	c.1429G>A	p.Glu477Lys (p.E477K)	NM_000424.4 M	SNV	P	6 +	10
14640	KRT5	c.482T>G	p.Ile161Ser (p.I161S)	NM_000424.4 M	SNV	P	3 +	3
66226	KRT5	c.1636C>A	p.Leu546Ile (p.L546I)	NM_000424.4 M	SNV	LB	2 +	2
14641	KRT5	c.980T>C	p.Met327Thr (p.M327T)	NM_000424.4 M	SNV	P	10 +	2
66213	KRT5	c.1411C>T	p.Arg471Cys (p.R471C)	NM_000424.4 M	SNV	VUS	7 +	1
66298	KRT5	c.991C>T	p.Arg331Cys (p.R331C)	NM_000424.4 M	SNV	P	3 +	1

6 Results, 20 per Page

1

Comparison

Back to top