Varaico: Literature-Extracted Genetic Variants

Gene:MAU2
Variant:p.H144insFs

MAU2

56 papers

Pfam Domains

Cohesin_loadaa 25–555UCSCCohesin loading factor

Gene Aliases

HGNC Name

MAU2 sister chromatid cohesion factor

HGNC Previous Symbol

KIAA0892

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015329.4
p.H144insFs
c.432dupC
Surrounding Variants
1 paper
NM_015329.4
p.C145fs
c.433_434fs
1 paper
NM_015329.4
p.Q135fs
c.403_404fs
1 paper
NM_015329.4
p.Q135_Q139delFs
c.403_415del13
1 paper
NM_015329.4
p.A125S
c.373G>T
1 paper
NM_015329.4
p.E120_N121Splc
c.361-181G>T
1 paper
NM_015329.4
p.K106Q
c.316A>C
1 paper
NM_015329.4
p.E158Q
c.472G>C
1 paper
NM_015329.4
p.D160_L168del9
c.478_503del27
1 paper
NM_015329.4
p.R176W
c.526C>T
1 paper
NM_015329.4
p.G179*
c.535G>T
1 paper
NM_015329.4
p.A185G
c.554C>G
1 paper
NM_015329.4
p.A185V
c.554C>T
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