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.D597_V598del2

c.1789_1793del6

Surrounding Variants

1 paper

NM_000251.3

p.N596insFs

c.1788dupT

1 paper

NM_000251.3

p.N596T

c.1787A>C

41 papers

NM_000251.3

p.N596S

c.1787A>G

4 papers

NM_000251.3

p.N596_D597delFs

c.1788_1789delTG

3 papers

NM_000251.3

p.D597N

c.1789G>A

1 paper

NM_000251.3

p.D597fs

c.1789_1790fs

1 paper

NM_000251.3

p.D597_V598insT

c.1789_1793ins3

1 paper

NM_000251.3

p.D597_V598ins4

c.1789_1793ins12

1 paper

NM_000251.3

p.D597Y

c.1789G>T

1 paper

NM_000251.3

p.D597delFs

c.1790delA

3 papers

NM_000251.3

p.N596fs

c.1786_1787fs

6 papers

NM_000251.3

p.D597A

c.1790A>C