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.N377H

c.1129A>C

Surrounding Variants

2 papers

NM_002439.5

p.N377K

c.1131T>A

1 paper

NM_002439.5

p.R379insFs

c.1135_1136insA

1 paper

NM_002439.5

p.N374H

c.1120A>C

1 paper

NM_002439.5

p.D380N

c.1138G>A

1 paper

NM_002439.5

p.D380fs

c.1138_1139fs

1 paper

NM_002439.5

p.E373V

c.1118A>T

4 papers

NM_002439.5

p.K383insFs

c.1148dupA

47 papers

NM_002439.5

p.K383delFs

c.1148delA

11 papers

NM_002439.5

p.K381fs

c.1141_1142fs

1 paper

NM_002439.5

p.K381*

c.1141A>T

1 paper

NM_002439.5

p.E373K

c.1117G>A

1 paper

NM_002439.5

p.S372F

c.1115C>T