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

8 papers

NM_000251.3

p.Y408*

c.1224T>G

Surrounding Variants

8 papers

NM_000251.3

p.Y408*

c.1224T>A

2 papers

NM_000251.3

p.Y408Y

c.1224T>C

1 paper

NM_000251.3

p.Q409_A420delFs

c.1225_1259del35

2 papers

NM_000251.3

p.Y408insFs

c.1224dupT

1 paper

NM_000251.3

p.Y408S

c.1223A>C

12 papers

NM_000251.3

p.Y408C

c.1223A>G

2 papers

NM_000251.3

p.Y408F

c.1223A>T

5 papers

NM_000251.3

p.Q409K

c.1225C>A

8 papers

NM_000251.3

p.Q409fs

c.1225_1226fs

4 papers

NM_000251.3

p.Q409E

c.1225C>G

10 papers

NM_000251.3

p.Q409*

c.1225C>T

42 papers

NM_000251.3

p.Q409delFs

c.1226_1227delAG