Varaico: Literature-Extracted Genetic Variants

Gene:MAU2
Variant:p.R432T

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.R432T
c.1295G>C
Surrounding Variants
1 paper
NM_015329.4
p.T420N
c.1259C>A
1 paper
NM_015329.4
p.V436_L437Splc
c.1309-483C>T
1 paper
NM_015329.4
p.D447insFs
c.1339_1340ins4
2 papers
NM_015329.4
p.E477K
c.1429G>A
1 paper
NM_015329.4
p.R407Q
c.1220G>A
1 paper
NM_015329.4
p.R407W
c.1219C>T
1 paper
NM_015329.4
p.C394Y
c.1181G>A
1 paper
NM_015329.4
p.L385_G386Splc
c.1156-1G>A
1 paper
NM_015329.4
p.R516_E517Splc
c.1548+296G>C
1 paper
NM_015329.4
p.L385_G386Splc
c.1155+15G>A
1 paper
NM_015329.4
p.L381P
c.1142T>C
1 paper
NM_015329.4
p.A379T
c.1135G>A
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