Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.E7K

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
Selected Variant
2 papers
NM_014628.3
p.E7K
c.19G>A
Surrounding Variants
1 paper
NM_014628.3
p.V8F
c.22G>T
1 paper
NM_014628.3
p.E5G
c.14A>G
1 paper
NM_014628.3
p.E5K
c.13G>A
1 paper
NM_014628.3
p.P4R
c.11C>G
1 paper
NM_014628.3
p.P4S
c.10C>T
1 paper
NM_014628.3
p.A2V
c.5C>T
2 papers
NM_014628.3
p.M1I
c.3G>A
1 paper
NM_014628.3
p.M1I
c.3G>C
1 paper
NM_014628.3
p.M1I
c.3G>T
1 paper
NM_014628.3
p.M1K
c.2T>A
1 paper
NM_014628.3
p.M1delins
c.3delinsG
1 paper
NM_014628.3
p.M1insFs
c.1dupA
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