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

2 papers

NM_000251.3

p.G548fs

c.1642_1643fs

Surrounding Variants

2 papers

NM_000251.3

p.G548fs

c.1642_1643fs

9 papers

NM_000251.3

p.G548C

c.1642G>T

7 papers

NM_000251.3

p.G548D

c.1643G>A

1 paper

NM_000251.3

p.G548A

c.1643G>C

1 paper

NM_000251.3

p.G548V

c.1643G>T

2 papers

NM_000251.3

p.G548delFs

c.1643delG

1 paper

NM_000251.3

p.G548_S554delFs

c.1643_1661del19

6 papers

NM_000251.3

p.N547S

c.1640A>G

2 papers

NM_000251.3

p.G548G

c.1644T>C

1 paper

NM_000251.3

p.V549delFs

c.1645delG

2 papers

NM_000251.3

p.N547fs

c.1639_1640fs

1 paper

NM_000251.3

p.N547D

c.1639A>G