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.S676_T677delFs

c.2028_2029delAA

Surrounding Variants

6 papers

NM_000251.3

p.S676*

c.2027C>A

6 papers

NM_000251.3

p.S676*

c.2027C>G

5 papers

NM_000251.3

p.S676L

c.2027C>T

1 paper

NM_000251.3

p.S676delFs

c.2028delA

7 papers

NM_000251.3

p.S676P

c.2026T>C

1 paper

NM_000251.3

p.S676_R680del0

c.2027_2038del12

1 paper

NM_000251.3

p.T677insFs

c.2030dupC

2 papers

NM_000251.3

p.T677A

c.2029A>G

1 paper

NM_000251.3

p.T677S

c.2029A>T

1 paper

NM_000251.3

p.K675T

c.2024A>C

5 papers

NM_000251.3

p.K675R

c.2024A>G

3 papers

NM_000251.3

p.T677R

c.2030C>G