Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.A924V

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.A924V
c.2771C>T
Surrounding Variants
1 paper
NM_002439.5
p.A924E
c.2771C>A
1 paper
NM_002439.5
p.E925K
c.2773G>A
1 paper
NM_002439.5
p.E925G
c.2774A>G
1 paper
NM_002439.5
p.P923L
c.2768C>T
1 paper
NM_002439.5
p.E926*
c.2776G>T
1 paper
NM_002439.5
p.A927T
c.2779G>A
1 paper
NM_002439.5
p.A927V
c.2780C>T
1 paper
NM_002439.5
p.A927A
c.2781G>T
3 papers
NM_002439.5
p.Y921fs
c.2761_2762fs
1 paper
NM_002439.5
p.T928K
c.2783C>A
1 paper
NM_002439.5
p.S920F
c.2759C>T
1 paper
NM_002439.5
p.S920fs
c.2758_2759fs
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