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

13 papers

NM_000251.3

p.M1I

c.3G>T

Surrounding Variants

9 papers

NM_000251.3

p.M1I

c.3G>A

8 papers

NM_000251.3

p.M1I

c.3G>C

1 paper

NM_000251.3

p.M1_A2insFs

c.3_4insA

4 papers

NM_000251.3

p.M1_A2insFs

c.3_4insT

1 paper

NM_000251.3

p.M1_A2insFs

c.3_4insTT

25 papers

NM_000251.3

p.A2T

c.4G>A

1 paper

NM_000251.3

p.A2P

c.4G>C

6 papers

NM_000251.3

p.A2S

c.4G>T

1 paper

NM_000251.3

p.A2delFs

c.5delC

7 papers

NM_000251.3

p.M1K

c.2T>A

12 papers

NM_000251.3

p.M1T

c.2T>C

8 papers

NM_000251.3

p.M1R

c.2T>G