Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.R192R

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.R192R
c.576A>T
Surrounding Variants
1 paper
NM_014628.3
p.F191_A193del0
c.572_577del6
1 paper
NM_014628.3
p.F195F
c.585C>T
1 paper
NM_014628.3
p.R188ins2
c.562_563ins6
2 papers
NM_014628.3
p.R188C
c.562C>T
2 papers
NM_014628.3
p.A197V
c.590C>T
1 paper
NM_014628.3
p.C186S
c.557G>C
1 paper
NM_014628.3
p.C186S
c.556T>A
1 paper
NM_014628.3
p.A185T
c.553G>A
1 paper
NM_014628.3
p.T183I
c.548C>T
1 paper
NM_014628.3
p.E202G
c.605A>G
1 paper
NM_014628.3
p.L181L
c.541C>T
1 paper
NM_014628.3
p.Q179H
c.537G>C
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