Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.E284G

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
2 papers
NM_001013836.2
p.E284G
c.851A>G
Surrounding Variants
1 paper
NM_001013836.2
p.L283L
c.847C>T
1 paper
NM_001013836.2
p.R292H
c.875G>A
1 paper
NM_001013836.2
p.E274K
c.820G>A
1 paper
NM_001013836.2
p.R270W
c.808C>T
1 paper
NM_001013836.2
p.T299M
c.896C>T
1 paper
NM_001013836.2
p.V301A
c.902T>C
1 paper
NM_001013836.2
p.G302C
c.904G>T
1 paper
NM_001013836.2
p.G302V
c.905G>T
1 paper
NM_001013836.2
p.E306D
c.918G>T
1 paper
NM_001013836.2
p.E306D
c.918G>C
1 paper
NM_001013836.2
p.E308_R309Splc
c.924+94T>C
1 paper
NM_001013836.2
p.E308_R309Splc
c.924+96C>G
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