Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.N374H

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.N374H
c.1120A>C
Surrounding Variants
1 paper
NM_002439.5
p.E373V
c.1118A>T
1 paper
NM_002439.5
p.E373K
c.1117G>A
1 paper
NM_002439.5
p.S372F
c.1115C>T
1 paper
NM_002439.5
p.I371N
c.1112T>A
2 papers
NM_002439.5
p.I371T
c.1112T>C
1 paper
NM_002439.5
p.N377H
c.1129A>C
1 paper
NM_002439.5
p.C370S
c.1109G>C
2 papers
NM_002439.5
p.N377K
c.1131T>A
1 paper
NM_002439.5
p.C370S
c.1108T>A
1 paper
NM_002439.5
p.C370G
c.1108T>G
1 paper
NM_002439.5
p.R379insFs
c.1135_1136insA
1 paper
NM_002439.5
p.D380N
c.1138G>A
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