Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.R80G

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.R80G
c.238A>G
Surrounding Variants
1 paper
NM_001013836.2
p.R82*
c.244C>T
2 papers
NM_001013836.2
p.R82P
c.245G>C
1 paper
NM_001013836.2
p.A88E
c.263C>A
1 paper
NM_001013836.2
p.K71N
c.213A>T
1 paper
NM_001013836.2
p.A89S
c.265G>T
2 papers
NM_001013836.2
p.Q66*
c.196C>T
1 paper
NM_001013836.2
p.R94M
c.281G>T
13 papers
NM_001013836.2
p.R59C
c.175C>T
1 paper
NM_001013836.2
p.R59G
c.175C>G
1 paper
NM_001013836.2
p.E56A
c.167A>C
1 paper
NM_001013836.2
p.E56Q
c.166G>C
1 paper
NM_001013836.2
p.E56K
c.166G>A
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