Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.D224Y

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.D224Y
c.670G>T
Surrounding Variants
1 paper
NM_014628.3
p.E223Q
c.667G>C
1 paper
NM_014628.3
p.R227insFs
c.679_680insT
2 papers
NM_014628.3
p.R227*
c.679C>T
1 paper
NM_014628.3
p.P228A
c.682C>G
1 paper
NM_014628.3
p.R219C
c.655C>T
1 paper
NM_014628.3
p.G217E
c.650G>A
1 paper
NM_014628.3
p.Q216R
c.647A>G
1 paper
NM_014628.3
p.V213V
c.639C>G
1 paper
NM_014628.3
p.H239L
c.716A>T
1 paper
NM_014628.3
p.E202G
c.605A>G
2 papers
NM_014628.3
p.A197V
c.590C>T
1 paper
NM_014628.3
p.S251F
c.752C>T
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