Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.S251_I252delFs

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
1 paper
NM_014628.3
p.S251_I252delFs
c.753_754delCA
Surrounding Variants
1 paper
NM_014628.3
p.S251F
c.752C>T
1 paper
NM_014628.3
p.R253delFs
c.757delC
3 papers
NM_014628.3
p.R253*
c.757C>T
NM_001003690.2
p.R285*
c.853C>T
1 paper
NM_014628.3
p.T255M
c.764C>T
1 paper
NM_014628.3
p.A256G
c.767C>G
1 paper
NM_014628.3
p.W262delFs
c.786delG
1 paper
NM_014628.3
p.H239L
c.716A>T
1 paper
NM_014628.3
p.Q264*
c.790C>T
1 paper
NM_014628.3
p.P266S
c.796C>T
1 paper
NM_014628.3
p.K270N
c.810A>C
1 paper
NM_014628.3
p.F272Y
c.815T>A
1 paper
NM_014628.3
p.R273G
c.817C>G
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