Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP

MAD2L1BP

215 papers

RefSeq Summary

The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset ...

Pfam Domains

p31cometaa 10–274UCSCMad1 and Cdc20-bound-Mad2 binding

Gene Aliases

HGNC Name

MAD2L1 binding protein

HGNC Alias Symbols

CMT2; KIAA0110; dJ261G23.1; p31comet

Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
3 papers
NM_014628.3
p.P90L
c.269C>T
2 papers
NM_014628.3
p.M1I
c.3G>A
2 papers
NM_014628.3
p.E7K
c.19G>A
2 papers
NM_014628.3
p.M55K
c.164T>A
2 papers
NM_014628.3
p.Q66R
c.197A>G
2 papers
NM_014628.3
p.L76P
c.227T>C
2 papers
NM_014628.3
p.S136I
c.407G>T
2 papers
NM_014628.3
p.R188C
c.562C>T
2 papers
NM_014628.3
p.A197V
c.590C>T
2 papers
NM_014628.3
p.D224Y
c.670G>T
2 papers
NM_014628.3
p.R227*
c.679C>T
2 papers
NM_014628.3
p.R253*
c.757C>T
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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."