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.L599S

c.1796T>C

Surrounding Variants

2 papers

NM_000251.3

p.L599*

c.1796T>A

2 papers

NM_000251.3

p.L599*

c.1796T>G

5 papers

NM_000251.3

p.Q601_L602delFs

c.1801_1805del5

1 paper

NM_000251.3

p.L599fs

c.1795_1796fs

1 paper

NM_000251.3

p.L599delFs

c.1796_1797delTA

1 paper

NM_000251.3

p.A600T

c.1798G>A

1 paper

NM_000251.3

p.A600S

c.1798G>T

1 paper

NM_000251.3

p.A600_V606delFs

c.1800_1818del19

2 papers

NM_000251.3

p.L599delFs

c.1796delT

15 papers

NM_000251.3

p.A600V

c.1799C>T

1 paper

NM_000251.3

p.V598A

c.1793T>C

1 paper

NM_000251.3

p.V598insFs

c.1794dupG