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.Y629C

c.1886A>G

Surrounding Variants

2 papers

NM_002439.5

p.H630D

c.1888C>G

1 paper

NM_002439.5

p.H630Y

c.1888C>T

1 paper

NM_002439.5

p.H630L

c.1889A>T

1 paper

NM_002439.5

p.H630_K631insFs

c.1890_1891insA

1 paper

NM_002439.5

p.K631I

c.1892A>T

1 paper

NM_002439.5

p.K632R

c.1895A>G

2 papers

NM_002439.5

p.K632K

c.1896A>G

1 paper

NM_002439.5

p.C626delFs

c.1877delG

1 paper

NM_002439.5

p.L625L

c.1875C>A

1 paper

NM_002439.5

p.K632_C633Splc

c.1896+1G>A

1 paper

NM_002439.5

p.G624R

c.1870G>C

1 paper

NM_002439.5

p.R623M

c.1868G>T