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.M1insFs

c.1_2ins5

Surrounding Variants

1 paper

NM_000251.3

p.M1delins

c.1delinsACAC

7 papers

NM_000251.3

p.M1insFs

c.2_3insT

1 paper

NM_000251.3

p.M1insFs

c.1_2ins10

33 papers

NM_000251.3

p.M1L

c.1A>C

1 paper

NM_000251.3

p.M1Fs

c.1delinsCCFs

26 papers

NM_000251.3

p.M1V

c.1A>G

16 papers

NM_000251.3

p.M1L

c.1A>T

8 papers

NM_000251.3

p.M1delFs

c.2delT

4 papers

NM_000251.3

p.M1insFs

c.1dupA

1 paper

NM_000251.3

p.M1insFs

c.1_2ins10

1 paper

NM_000251.3

p.M1insFs

c.2_3ins4

1 paper

NM_000251.3

p.M1Fs

c.1delinsTAFs