Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
Log In
|
Sign Up
EN
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Mutation Direct
Effortless mutation search and display tool
Search
Search criteria:
Gene:
PIK3CA
& Disease:
Brain Stem Glioma
, 12 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
13655
PIK3CA
c.1633G>A
p.Glu545Lys (p.E545K)
NM_006218.4
M
SNV
P
34
+
45
13652
PIK3CA
c.3140A>G
p.His1047Arg (p.H1047R)
NM_006218.4
M
SNV
P
37
+
41
13653
PIK3CA
c.3140A>T
p.His1047Leu (p.H1047L)
NM_006218.4
M
SNV
P
36
+
34
375896
PIK3CA
c.1633G>C
p.Glu545Gln (p.E545Q)
NM_006218.4
M
SNV
P
25
+
20
13656
PIK3CA
c.1634A>G
p.Glu545Gly (p.E545G)
NM_006218.4
M
SNV
P
27
+
17
13659
PIK3CA
c.1634A>C
p.Glu545Ala (p.E545A)
NM_006218.4
M
SNV
P
25
+
16
376476
PIK3CA
c.2176G>A
p.Glu726Lys (p.E726K)
NM_006218.4
M
SNV
P
12
+
10
376049
PIK3CA
c.263G>A
p.Arg88Gln (p.R88Q)
NM_006218.4
M
SNV
P
15
+
8
39705
PIK3CA
c.3139C>T
p.His1047Tyr (p.H1047Y)
NM_006218.4
M
SNV
P
37
+
7
217293
PIK3CA
c.1635G>T
p.Glu545Asp (p.E545D)
NM_006218.4
M
SNV
P
29
+
4
376477
PIK3CA
c.2177A>C
p.Glu726Ala (p.E726A)
NM_006218.4
M
SNV
LP
7
+
1
376481
PIK3CA
c.3141T>G
p.His1047Gln (p.H1047Q)
NM_006218.4
M
SNV
LP
23
+
1
12 Results, 20 per Page
1
Wechat
Comparison
Al agent
Tutorials
Back to top