Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.R623G

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
2 papers
NM_002439.5
p.R623G
c.1867A>G
Surrounding Variants
1 paper
NM_002439.5
p.E622E
c.1866G>A
1 paper
NM_002439.5
p.R623M
c.1868G>T
1 paper
NM_002439.5
p.G624R
c.1870G>C
1 paper
NM_002439.5
p.I621T
c.1862T>C
1 paper
NM_002439.5
p.L625L
c.1875C>A
16 papers
NM_002439.5
p.D620N
c.1858G>A
1 paper
NM_002439.5
p.C626delFs
c.1877delG
1 paper
NM_002439.5
p.Y629C
c.1886A>G
1 paper
NM_002439.5
p.R616H
c.1847G>A
2 papers
NM_002439.5
p.H630D
c.1888C>G
2 papers
NM_002439.5
p.R616C
c.1846C>T
1 paper
NM_002439.5
p.H630Y
c.1888C>T
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