Varaico: Literature-Extracted Genetic Variants

Gene:MTUS2
Variant:p.D488H

MTUS2

60 papers

Pfam Domains

MTUS1_CCDC69_CC2aa 1232–1303UCSCMTUS1/CCDC69 family second coiled-coil domain

Gene Aliases

HGNC Name

microtubule associated scaffold protein 2

HGNC Previous Symbol

KIAA0774

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001033602.4
p.D488H
c.1462G>C
Surrounding Variants
1 paper
NM_001033602.4
p.S494*
c.1481C>G
1 paper
NM_001033602.4
p.E498G
c.1493A>G
1 paper
NM_001033602.4
p.V502V
c.1506C>T
1 paper
NM_001033602.4
p.E508*
c.1522G>T
1 paper
NM_001033602.4
p.D451G
c.1352A>G
1 paper
NM_001033602.4
p.A401V
c.1202C>T
1 paper
NM_001033602.4
p.S577fs
c.1729_1730fs
1 paper
NM_001033602.4
p.S366insFs
c.1097_1098insA
1 paper
NM_001033602.4
p.G345G
c.1035A>G
1 paper
NM_001033602.4
p.K325M
c.974A>T
1 paper
NM_001033602.4
p.A299P
c.895G>C
1 paper
NM_001033602.4
p.E298*
c.892G>T
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