Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.L456P

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.L456P
c.1367T>C
Surrounding Variants
2 papers
NM_001013836.2
p.Q455*
c.1363C>T
1 paper
NM_001013836.2
p.E453_A454Splc
c.1360-2A>T
2 papers
NM_001013836.2
p.L463M
c.1387C>A
1 paper
NM_001013836.2
p.Q466*
c.1396C>T
1 paper
NM_001013836.2
p.Q468K
c.1402C>A
1 paper
NM_001013836.2
p.R469K
c.1406G>A
1 paper
NM_001013836.2
p.M472I
c.1416G>T
1 paper
NM_001013836.2
p.M472I
c.1416G>C
1 paper
NM_001013836.2
p.M472I
c.1416G>A
1 paper
NM_001013836.2
p.M472_L473Splc
c.1416+11C>T
1 paper
NM_001013836.2
p.M472_L473Splc
c.1416+13C>T
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