Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.Q532_G533Splc

MAD1L1

149 papers

RefSeq Summary

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer a...

Pfam Domains

MADaa 54–716UCSCMitotic checkpoint protein

Gene Aliases

HGNC Name

mitotic arrest deficient 1 like 1

HGNC Alias Symbols

HsMAD1; TXBP181; MAD1; PIG9; TP53I9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013836.2
p.Q532_G533Splc
c.1596+2073T>C
Surrounding Variants
1 paper
NM_001013836.2
p.Q532_G533Splc
c.1596+18T>C
1 paper
NM_001013836.2
p.Q532Q
c.1596G>A
1 paper
NM_001013836.2
p.Q532E
c.1594C>G
3 papers
NM_001013836.2
p.R528Q
c.1583G>A
1 paper
NM_001013836.2
p.R528W
c.1582C>T
1 paper
NM_001013836.2
p.E516K
c.1546G>A
1 paper
NM_001013836.2
p.R512Q
c.1535G>A
1 paper
NM_001013836.2
p.E509E
c.1527A>G
1 paper
NM_001013836.2
p.L503F
c.1509G>T
1 paper
NM_001013836.2
p.L503F
c.1509G>C
1 paper
NM_001013836.2
p.R502Splc
c.1506-67C>T
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