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.A420fs

c.1258_1259fs

Surrounding Variants

3 papers

NM_000251.3

p.A420T

c.1258G>A

2 papers

NM_000251.3

p.A420fs

c.1258_1259fs

1 paper

NM_000251.3

p.A420V

c.1259C>T

2 papers

NM_000251.3

p.A420delFs

c.1260delT

1 paper

NM_000251.3

p.A420_L421del1

c.1260_1262delTCT

1 paper

NM_000251.3

p.Q419R

c.1256A>G

1 paper

NM_000251.3

p.Q419L

c.1256A>T

1 paper

NM_000251.3

p.A420delFs

c.1258delG

1 paper

NM_000251.3

p.Q419_E425delFs

c.1257_1273del17

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