Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.A54A

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
7 papers
NM_002439.5
p.A54A
c.162T>C
Surrounding Variants
4 papers
NM_002439.5
p.A62_P63ins3
c.186_187ins9
1 paper
NM_002439.5
p.A57_A62ins2
c.169_186dup18
1 paper
NM_002439.5
p.A54delins
c.162delinsTTCATCGGCC
2 papers
NM_002439.5
p.A60_A62del0
c.178_186del9
1 paper
NM_002439.5
p.A55_P63del0
c.163_189del27
2 papers
NM_002439.5
p.A54_P64delins
c.162_190delinsCG
1 paper
NM_002439.5
p.A54_P64delins
c.162_192delinsCGCC
1 paper
NM_002439.5
p.A54_A55insFs
c.162_163dupTG
1 paper
NM_002439.5
p.A55T
c.163G>A
1 paper
NM_002439.5
p.A55_P64del0
c.164_190del27
1 paper
NM_002439.5
p.A54_P63del0
c.162_188del27
1 paper
NM_002439.5
p.A56_A60del0
c.168_179del12
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