Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L2
Variant:p.K77_N78Splc

MAD2L2

86 papers

RefSeq Summary

The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The en...

Pfam Domains

HORMAaa 16–134UCSCHORMA domain

Gene Aliases

HGNC Name

mitotic arrest deficient 2 like 2

HGNC Alias Symbols

MAD2B; REV7; POLZ2; FANCV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006341.4
p.K77_N78Splc
c.232-46C>G
Surrounding Variants
1 paper
NM_006341.4
p.K82R
c.245A>G
4 papers
NM_006341.4
p.V85E
c.254T>A
1 paper
NM_006341.4
p.I87S
c.260T>G
1 paper
NM_006341.4
p.D89E
c.267T>A
1 paper
NM_006341.4
p.K90R
c.269A>G
2 papers
NM_006341.4
p.R93H
c.278G>A
1 paper
NM_006341.4
p.K97R
c.290A>G
2 papers
NM_006341.4
p.T103A
c.307A>G
1 paper
NM_006341.4
p.S111Splc
c.332+41T>G
1 paper
NM_006341.4
p.K77_N78Splc
c.231+1G>A
1 paper
NM_006341.4
p.K77R
c.230A>G
1 paper
NM_006341.4
p.K72R
c.215A>G
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."