Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.R263W

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.R263W
c.787C>T
Surrounding Variants
1 paper
NM_001013836.2
p.E258*
c.772G>T
1 paper
NM_001013836.2
p.R254W
c.760A>T
2 papers
NM_001013836.2
p.E236D
c.708G>T
2 papers
NM_001013836.2
p.E236D
c.708G>C
1 paper
NM_001013836.2
p.E236E
c.708G>A
1 paper
NM_001013836.2
p.K231R
c.692A>G
1 paper
NM_001013836.2
p.E229E
c.687G>A
1 paper
NM_001013836.2
p.R270W
c.808C>T
1 paper
NM_001013836.2
p.E274K
c.820G>A
1 paper
NM_001013836.2
p.L283L
c.847C>T
2 papers
NM_001013836.2
p.E284G
c.851A>G
1 paper
NM_001013836.2
p.R292H
c.875G>A
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