Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.E75V

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.E75V
c.224A>T
Surrounding Variants
2 papers
NM_014628.3
p.L76P
c.227T>C
1 paper
NM_014628.3
p.L77R
c.230T>G
1 paper
NM_014628.3
p.I80V
c.238A>G
1 paper
NM_014628.3
p.Q83H
c.249A>T
2 papers
NM_014628.3
p.Q66R
c.197A>G
1 paper
NM_014628.3
p.P88L
c.263C>T
1 paper
NM_014628.3
p.P61L
c.182C>T
1 paper
NM_014628.3
p.L89P
c.266T>C
3 papers
NM_014628.3
p.P90L
c.269C>T
1 paper
NM_014628.3
p.V58L
c.172G>C
1 paper
NM_014628.3
p.V58L
c.172G>T
1 paper
NM_014628.3
p.Q93Q
c.279G>A
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