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.L994H

c.2981T>A

Surrounding Variants

1 paper

NM_002439.5

p.E995Q

c.2983G>C

1 paper

NM_002439.5

p.T993I

c.2978C>T

1 paper

NM_002439.5

p.Y996_F997insT

c.2986_2990ins3

2 papers

NM_002439.5

p.I998V

c.2992A>G

2 papers

NM_002439.5

p.A990V

c.2969C>T

1 paper

NM_002439.5

p.A990T

c.2968G>A

1 paper

NM_002439.5

p.A988A

c.2964C>A

1 paper

NM_002439.5

p.D1000N

c.2998G>A

2 papers

NM_002439.5

p.D1000E

c.3000T>A

2 papers

NM_002439.5

p.D1000E

c.3000T>G

1 paper

NM_002439.5

p.D1000_V1001Splc

c.3000+1G>A

1 paper

NM_002439.5

p.D1000_V1001Splc

c.3000+1G>T