Varaico: Literature-Extracted Genetic Variants

Gene:MSH3

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
1–12 of 2024 variants
52 papers
NM_002439.5
p.A1045T
c.3133G>A
47 papers
NM_002439.5
p.K383delFs
c.1148delA
39 papers
NM_002439.5
p.K383fs
c.1147_1148fs
28 papers
NM_002439.5
p.I79V
c.235A>G
26 papers
NM_002439.5
p.Q949R
c.2846A>G
25 papers
NM_002439.5
p.L911W
c.2732T>G
22 papers
NM_002439.5
p.K383fs
c.1147_1148fs
20 papers
NM_002439.5
p.K349*
c.1045A>T
19 papers
NM_002439.5
p.A61_P63ins1
c.181_189dup9
18 papers
NM_002439.5
p.A54_A60del0
c.162_179del18
16 papers
NM_002439.5
p.D620N
c.1858G>A
15 papers
NM_002439.5
p.P67_P69del0
c.199_207del9
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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."