加入收藏

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: ATP1A2 & Disease: AHC1, 188 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
204886	ATP1A2	c.1148G>A	p.Arg383His (p.R383H)	NM_000702.4 M	SNV	P	1 +	4
430293	ATP1A2	c.889G>A	p.Ala297Thr (p.A297T)	NM_000702.4 M	SNV	P	3 +	4
446871	ATP1A2	c.2563G>A	p.Gly855Arg (p.G855R)	NM_000702.4 M	SNV	P	5 +	4
12921	ATP1A2	c.1133C>A	p.Thr378Asn (p.T378N)	NM_000702.4 M	SNV	P	2 +	4
12925	ATP1A2	c.2936C>T	p.Pro979Leu (p.P979L)	NM_000702.4 M	SNV	P	3 +	4
12929	ATP1A2	c.193C>T	p.Arg65Trp (p.R65W)	NM_000702.4 M	SNV	P	3 +	4
204888	ATP1A2	c.1474G>A	p.Glu492Lys (p.E492K)	NM_000702.4 M	SNV	LB	3 +	3
1029935	ATP1A2	c.1843G>A	p.Gly615Arg (p.G615R)	NM_000702.4 M	SNV	P	2 +	3
204910	ATP1A2	c.192G>T	p.Gln64His (p.Q64H)	NM_000702.4 M	SNV	VUS	3 +	2
385392	ATP1A2	c.1461+5G>A	--	NM_000702.4 M	SNV	LB	3 +	2
128483	ATP1A2	c.2563+4C>T	--	NM_000702.4 M	SNV	LB	5 +	2
128485	ATP1A2	c.340G>A	p.Gly114Ser (p.G114S)	NM_000702.4 M	SNV	LB	5 +	2
847409	ATP1A2	c.748+3G>A	--	NM_000702.4 M	SNV	VUS	2 +	2
1321203	ATP1A2	c.2336G>A	p.Ser779Asn (p.S779N)	NM_000702.4 M	SNV	P	1 +	1
197162	ATP1A2	c.194G>T	p.Arg65Leu (p.R65L)	NM_000702.4 M	SNV	B	4 +	1
12928	ATP1A2	c.1244C>T	p.Thr415Met (p.T415M)	NM_000702.4 M	SNV	P	3 +	1
670754	ATP1A2	c.495+81T>A	--	NM_000702.4 M	SNV	B	4 +	1
1266851	ATP1A2	c.1651+49C>T	--	NM_000702.4 M	SNV	B	4 +	1
128477	ATP1A2	c.1119G>A	p.Ser373= (p.S373=)	NM_000702.4 M	SNV	LB	5 +	1
204869	ATP1A2	c.1092G>A	p.Thr364= (p.T364=)	NM_000702.4 M	SNV	LB	3 +	0

188 Results, 20 per Page

...

Comparison