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.L421Fs

c.1261delinsTATFs

Surrounding Variants

4 papers

NM_000251.3

p.L421M

c.1261C>A

1 paper

NM_000251.3

p.L421fs

c.1261_1262fs

1 paper

NM_000251.3

p.L421_E422insT

c.1261_1265ins3

2 papers

NM_000251.3

p.L421V

c.1261C>G

1 paper

NM_000251.3

p.L421L

c.1261C>T

1 paper

NM_000251.3

p.L421Fs

c.1261_1262delinsCFs

4 papers

NM_000251.3

p.L421P

c.1262T>C

1 paper

NM_000251.3

p.L421delFs

c.1261delC

1 paper

NM_000251.3

p.L421del1

c.1261_1262delCTG

1 paper

NM_000251.3

p.L421_E422del2

c.1261_1265del6

1 paper

NM_000251.3

p.A420V

c.1259C>T

2 papers

NM_000251.3

p.A420delFs

c.1260delT