Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1
Variant:p.S30G

MAD2L1

72 papers

RefSeq Summary

MAD2L1 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. MAD2L1 is related to the MAD2L2...

Pfam Domains

HORMAaa 16–194UCSCHORMA domain

Gene Aliases

HGNC Name

mitotic arrest deficient 2 like 1

HGNC Alias Symbols

MAD2; HSMAD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002358.4
p.S30G
c.88A>G
Surrounding Variants
1 paper
NM_002358.4
p.G27D
c.80G>A
1 paper
NM_002358.4
p.F26S
c.77T>C
1 paper
NM_002358.4
p.G36D
c.107G>A
1 paper
NM_002358.4
p.T44S
c.130A>T
1 paper
NM_002358.4
p.T44S
c.131C>G
1 paper
NM_002358.4
p.K48R
c.143A>G
1 paper
NM_002358.4
p.Y49N
c.145T>A
1 paper
NM_002358.4
p.D58V
c.173A>T
1 paper
NM_002358.4
p.E70K
c.208G>A
1 paper
NM_002358.4
p.E22K
c.64G>A
1 paper
NM_002358.4
p.L13Q
c.38T>A
1 paper
NM_002358.4
p.L5V
c.13C>G
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