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

6 papers

NM_000251.3

p.T552P

c.1654A>C

Surrounding Variants

1 paper

NM_000251.3

p.T552A

c.1654A>G

5 papers

NM_000251.3

p.T552S

c.1654A>T

2 papers

NM_000251.3

p.T552delFs

c.1656delC

1 paper

NM_000251.3

p.T552fs

c.1654_1655fs

5 papers

NM_000251.3

p.T552S

c.1655C>G

1 paper

NM_000251.3

p.T552I

c.1655C>T

1 paper

NM_000251.3

p.N553_S554del1

c.1658_1660delACA

3 papers

NM_000251.3

p.F551L

c.1653T>A

1 paper

NM_000251.3

p.F551L

c.1653T>G

1 paper

NM_000251.3

p.T552T

c.1656C>T

1 paper

NM_000251.3

p.N553delFs

c.1657delA

1 paper

NM_000251.3

p.N553fs

c.1657_1658fs