Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1

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
1–12 of 222 variants
13 papers
NM_001013836.2
p.R59C
c.175C>T
11 papers
NM_001013836.2
p.R558H
c.1673G>A
3 papers
NM_001013836.2
p.R528Q
c.1583G>A
2 papers
NM_001013836.2
p.Q66*
c.196C>T
2 papers
NM_001013836.2
p.R82P
c.245G>C
2 papers
NM_001013836.2
p.R144S
c.432G>C
2 papers
NM_001013836.2
p.R179Q
c.536G>A
2 papers
NM_001013836.2
p.E236D
c.708G>T
2 papers
NM_001013836.2
p.E236D
c.708G>C
2 papers
NM_001013836.2
p.E284G
c.851A>G
2 papers
NM_001013836.2
p.Q455*
c.1363C>T
2 papers
NM_001013836.2
p.L463M
c.1387C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."