Varaico: Literature-Extracted Genetic Variants

Gene:MAGI1
Variant:p.Q407H

MAGI1

204 papers

RefSeq Summary

The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner sur...

Gene Aliases

HGNC Name

membrane associated guanylate kinase, WW and PDZ domain containing 1

HGNC Previous Symbol

BAIAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001033057.2
p.Q407H
c.1221A>T
Surrounding Variants
1 paper
NM_001033057.2
p.Q407H
c.1221A>C
2 papers
NM_001033057.2
p.Q406_Q407del1
c.1218_1220delTGC
1 paper
NM_001033057.2
p.Q404_Q405ins1
c.1212_1213insACA
1 paper
NM_001033057.2
p.Q411Q
c.1233A>G
1 paper
NM_001033057.2
p.Q411_Q412ins1
c.1233_1234insTAG
1 paper
NM_001033057.2
p.K397N
c.1191G>T
1 paper
NM_001033057.2
p.K397N
c.1191G>C
1 paper
NM_001033057.2
p.Q420_Q421ins1
c.1260_1261insCAG
1 paper
NM_001033057.2
p.Q421*
c.1261C>T
7 papers
NM_001033057.2
p.Q421_T422ins1
c.1263_1264insCAG
1 paper
NM_001033057.2
p.Q421_T422insFs
c.1263_1264insC
1 paper
NM_001033057.2
p.Q421_T422insFs
c.1263_1264insCA
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