Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.R556H

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.R556H
c.1667G>A
Surrounding Variants
1 paper
NM_001013836.2
p.R554S
c.1662G>T
1 paper
NM_001013836.2
p.R554S
c.1662G>C
11 papers
NM_001013836.2
p.R558H
c.1673G>A
1 paper
NM_001013836.2
p.S546I
c.1637G>T
1 paper
NM_001013836.2
p.A566V
c.1697C>T
1 paper
NM_001013836.2
p.H544Y
c.1630C>T
1 paper
NM_001013836.2
p.R570Q
c.1709G>A
1 paper
NM_001013836.2
p.R572C
c.1714C>T
2 papers
NM_001013836.2
p.R572R
c.1716C>T
1 paper
NM_001013836.2
p.Q537H
c.1611G>T
1 paper
NM_001013836.2
p.Q537H
c.1611G>C
1 paper
NM_001013836.2
p.R576C
c.1726C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."