Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.L128P

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.L128P
c.383T>C
Surrounding Variants
1 paper
NM_014628.3
p.Q126*
c.376C>T
1 paper
NM_014628.3
p.C124_A129delFs
c.372_387del16
1 paper
NM_014628.3
p.S133N
c.398G>A
1 paper
NM_014628.3
p.K123E
c.367A>G
1 paper
NM_014628.3
p.K123*
c.367A>T
1 paper
NM_014628.3
p.S133R
c.399T>G
1 paper
NM_014628.3
p.V134delFs
c.400delG
1 paper
NM_014628.3
p.V134V
c.402C>G
1 paper
NM_014628.3
p.L135V
c.403C>G
2 papers
NM_014628.3
p.S136I
c.407G>T
1 paper
NM_014628.3
p.E139K
c.415G>A
1 paper
NM_014628.3
p.T117fs
c.349_350fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."