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:
MAPK1
& Disease:
Microcephaly
, 6 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
917742
MAPK1
c.221T>A
p.Ile74Asn (p.I74N)
NM_002745.5
M
SNV
P
3
+
1
917743
MAPK1
c.238C>T
p.His80Tyr (p.H80Y)
NM_002745.5
M
SNV
P
2
+
1
917748
MAPK1
c.964G>C
p.Glu322Gln (p.E322Q)
NM_002745.5
M
SNV
P
2
+
1
917742
MAPK1
c.221T>A
p.Ile74Asn (p.I74N)
NM_138957.3
SNV
P
3
+
1
917743
MAPK1
c.238C>T
p.His80Tyr (p.H80Y)
NM_138957.3
SNV
P
2
+
1
917748
MAPK1
c.964G>C
p.Glu322Gln (p.E322Q)
NM_138957.3
SNV
P
2
+
1
6 Results, 20 per Page
1
Wechat
Comparison
Al agent
Tutorials
Back to top