Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: EVC2 & Disease: SRTD12, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
446664	EVC2	c.1708C>T	p.Gln570Ter (p.Q570X)	NM_147127.5 M	SNV	P	5 +	4
446685	EVC2	c.3121C>T	p.Gln1041Ter (p.Q1041X)	NM_147127.5 M	SNV	P	4 +	4
446664	EVC2	c.1468C>T	p.Gln490Ter (p.Q490X)	NM_001166136.2	SNV	P	5 +	4
446685	EVC2	c.2881C>T	p.Gln961Ter (p.Q961X)	NM_001166136.2	SNV	P	4 +	4
281122	EVC2	c.1823G>A	p.Arg608His (p.R608H)	NM_147127.5 M	SNV	LP	4 +	1
281122	EVC2	c.1583G>A	p.Arg528His (p.R528H)	NM_001166136.2	SNV	LP	4 +	1

6 Results, 20 per Page

1

Comparison

Back to top