Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.F142S

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.F142S
c.425T>C
Surrounding Variants
1 paper
NM_014628.3
p.F141L
c.423C>A
1 paper
NM_014628.3
p.F141L
c.423C>G
1 paper
NM_014628.3
p.F141L
c.421T>C
1 paper
NM_001003690.2
p.F173fs
c.517_518fs
1 paper
NM_001003690.2
p.F173delFs
c.518delT
1 paper
NM_014628.3
p.R144_T145insFs
c.432_433insT
1 paper
NM_014628.3
p.E139K
c.415G>A
1 paper
NM_014628.3
p.L146P
c.437T>C
1 paper
NM_014628.3
p.P148delFs
c.443delC
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.P148L
c.443C>T
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