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.F657L

c.1971T>G

Surrounding Variants

1 paper

NM_000251.3

p.F657L

c.1971T>A

1 paper

NM_000251.3

p.E658_K659del2

c.1972_1976del6

1 paper

NM_000251.3

p.E658K

c.1972G>A

1 paper

NM_000251.3

p.K659insFs

c.1977dupA

1 paper

NM_000251.3

p.E658fs

c.1972_1973fs

1 paper

NM_000251.3

p.E658*

c.1972G>T

1 paper

NM_000251.3

p.K659delFs

c.1977delA

1 paper

NM_000251.3

p.K659delFs

c.1975_1976delAA

1 paper

NM_000251.3

p.E658fs

c.1972_1973fs

1 paper

NM_000251.3

p.E658_K659del1

c.1973_1975delAAA

1 paper

NM_000251.3

p.E658_K659delFs

c.1974_1977del4

1 paper

NM_000251.3

p.F657Y

c.1970T>A