Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.G548_F551delFs

c.1642_1651del10

Surrounding Variants

2 papers

NM_000251.3

p.K546N

c.1638G>C

2 papers

NM_000251.3

p.N547insFs

c.1639dupA

2 papers

NM_000251.3

p.K546N

c.1638G>T

1 paper

NM_000251.3

p.N547delFs

c.1639delA

3 papers

NM_000251.3

p.N547_G548insFs

c.1639_1643dup5

2 papers

NM_000251.3

p.N547fs

c.1639_1640fs

1 paper

NM_000251.3

p.K546T

c.1637A>C

2 papers

NM_000251.3

p.K546R

c.1637A>G

1 paper

NM_000251.3

p.N547D

c.1639A>G

1 paper

NM_000251.3

p.N547Y

c.1639A>T

3 papers

NM_000251.3

p.N547fs

c.1639_1640fs

4 papers

NM_000251.3

p.K546insFs

c.1637_1638insGA