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.Q74P

c.221A>C

Surrounding Variants

2 papers

NM_002439.5

p.Q74fs

c.220_221fs

6 papers

NM_002439.5

p.P73L

c.218C>T

1 paper

NM_002439.5

p.P73S

c.217C>T

1 paper

NM_002439.5

p.L75L

c.225G>A

1 paper

NM_002439.5

p.P76fs

c.226_227fs

1 paper

NM_002439.5

p.P76A

c.226C>G

1 paper

NM_002439.5

p.P72L

c.215C>T

2 papers

NM_002439.5

p.P72S

c.214C>T

1 paper

NM_002439.5

p.P76P

c.228G>A

1 paper

NM_002439.5

p.F71_P72insFs

c.213_214insT

28 papers

NM_002439.5

p.I79V

c.235A>G

1 paper

NM_002439.5

p.P69L

c.206C>T