Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.P18P

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.P18P
c.54T>C
Surrounding Variants
1 paper
NM_002439.5
p.A19_Q21del0
c.55_63del9
2 papers
NM_002439.5
p.P18L
c.53C>T
1 paper
NM_002439.5
p.P18_A19delFs
c.54_57del4
1 paper
NM_002439.5
p.P18T
c.52C>A
2 papers
NM_002439.5
p.A19V
c.56C>T
1 paper
NM_002439.5
p.A17A
c.51C>T
5 papers
NM_002439.5
p.P18_A19del0
c.52_57del6
1 paper
NM_002439.5
p.A17V
c.50C>T
2 papers
NM_002439.5
p.R20K
c.59G>A
1 paper
NM_002439.5
p.A17_P18del1
c.51_53delCCC
1 paper
NM_002439.5
p.A17_A19del0
c.51_56del6
1 paper
NM_002439.5
p.Q21E
c.61C>G
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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."