Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.A158_L159delins

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.A158_L159delins
c.474_476delinsAGT
Surrounding Variants
1 paper
NM_014628.3
p.L153L
c.459C>T
1 paper
NM_014628.3
p.L153F
c.457C>T
1 paper
NM_014628.3
p.V150L
c.448G>C
1 paper
NM_001003690.2
p.R181*
c.541C>T
1 paper
NM_014628.3
p.P148L
c.443C>T
1 paper
NM_014628.3
p.P148fs
c.442_443fs
1 paper
NM_014628.3
p.P148fs
c.442_443fs
1 paper
NM_014628.3
p.P148delFs
c.443delC
1 paper
NM_014628.3
p.L169F
c.507G>T
1 paper
NM_014628.3
p.L146P
c.437T>C
1 paper
NM_014628.3
p.L171insFs
c.513dupG
1 paper
NM_014628.3
p.L172fs
c.514_515fs
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