Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.M953L

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.M953L
c.2857A>T
Surrounding Variants
1 paper
NM_002439.5
p.M953L
c.2857A>C
1 paper
NM_002439.5
p.F952C
c.2855T>G
1 paper
NM_002439.5
p.E954K
c.2860G>A
26 papers
NM_002439.5
p.Q949R
c.2846A>G
2 papers
NM_002439.5
p.Q949L
c.2846A>T
1 paper
NM_002439.5
p.L956L
c.2868G>A
2 papers
NM_002439.5
p.Q949fs
c.2845_2846fs
3 papers
NM_002439.5
p.Q949*
c.2845C>T
1 paper
NM_002439.5
p.T957I
c.2870C>T
1 paper
NM_002439.5
p.G948R
c.2842G>A
1 paper
NM_002439.5
p.D958N
c.2872G>A
1 paper
NM_002439.5
p.G948R
c.2842G>C
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