Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.A54ins3

MSH3

1,102 papers

RefSeq Summary

The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch ...

Pfam Domains

MutS_Iaa 230–343UCSCMutS domain I
MutS_IIaa 366–523UCSCMutS domain II
MutS_IIIaa 540–838UCSCMutS domain III
MutS_Vaa 892–1094UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 3

HGNC Alias Symbols

DUP; MRP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002439.5
p.A54ins3
c.161_162ins9
Surrounding Variants
1 paper
NM_002439.5
p.A54_A62ins3
c.160_186dup27
18 papers
NM_002439.5
p.A54_A60del0
c.162_179del18
1 paper
NM_002439.5
p.A52P
c.154G>C
1 paper
NM_002439.5
p.A52insFs
c.155_156insG
5 papers
NM_002439.5
p.A51S
c.151G>T
1 paper
NM_002439.5
p.A53_A55del0
c.159_164del6
1 paper
NM_002439.5
p.G50_A51ins1
c.150_151insGCT
3 papers
NM_002439.5
p.A54_A57ins1
c.162_170dup9
5 papers
NM_002439.5
p.A54_A57del0
c.162_170del9
1 paper
NM_002439.5
p.A51_A56del0
c.151_168del18
2 papers
NM_002439.5
p.A53T
c.157G>A
1 paper
NM_002439.5
p.G50A
c.149G>C
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