Varaico: Literature-Extracted Genetic Variants

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.D45H

c.133G>C

Surrounding Variants

4 papers

NM_002439.5

p.Q46*

c.136C>T

2 papers

NM_002439.5

p.A44T

c.130G>A

2 papers

NM_002439.5

p.A43A

c.129A>G

1 paper

NM_002439.5

p.G42D

c.125G>A

1 paper

NM_002439.5

p.D48_P49insFs

c.144_145ins5

2 papers

NM_002439.5

p.T41I

c.122C>T

1 paper

NM_002439.5

p.D48D

c.144C>T

2 papers

NM_002439.5

p.S40P

c.118T>C

1 paper

NM_002439.5

p.G50A

c.149G>C

1 paper

NM_002439.5

p.S39Y

c.116C>A

1 paper

NM_002439.5

p.G50_A51ins1

c.150_151insGCT

3 papers

NM_002439.5

p.A54_A57ins1

c.162_170dup9