Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.M939L

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.M939L
c.2815A>C
Surrounding Variants
1 paper
NM_002439.5
p.M939L
c.2815A>T
1 paper
NM_002439.5
p.M939R
c.2816T>G
1 paper
NM_002439.5
p.G940D
c.2819G>A
1 paper
NM_002439.5
p.A942V
c.2825C>T
1 paper
NM_002439.5
p.D943G
c.2828A>G
1 paper
NM_002439.5
p.N944Y
c.2830A>T
1 paper
NM_002439.5
p.I945T
c.2834T>C
1 paper
NM_002439.5
p.I945M
c.2835A>G
1 paper
NM_002439.5
p.Y946S
c.2837A>C
1 paper
NM_002439.5
p.G948R
c.2842G>A
1 paper
NM_002439.5
p.G948R
c.2842G>C
2 papers
NM_002439.5
p.G948*
c.2842G>T
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