Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.E157_T158Splc

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.E157_T158Splc
c.471+254T>G
Surrounding Variants
1 paper
NM_001013836.2
p.A155V
c.464C>T
1 paper
NM_001013836.2
p.A153T
c.457G>A
1 paper
NM_001013836.2
p.E149E
c.447G>A
2 papers
NM_001013836.2
p.R144S
c.432G>C
1 paper
NM_001013836.2
p.Q135R
c.404A>G
1 paper
NM_001013836.2
p.E122E
c.366G>A
1 paper
NM_001013836.2
p.G119R
c.355G>C
1 paper
NM_001013836.2
p.G119R
c.355G>A
1 paper
NM_001013836.2
p.E117K
c.349G>A
1 paper
NM_001013836.2
p.R111P
c.332G>C
1 paper
NM_001013836.2
p.T108M
c.323C>T
1 paper
NM_001013836.2
p.R102H
c.305G>A
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