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.N596fs

c.1786_1787fs

Surrounding Variants

3 papers

NM_000251.3

p.N596fs

c.1786_1787fs

1 paper

NM_000251.3

p.N596_D597del1

c.1788_1790delTGA

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

1 paper

NM_000251.3

p.L595L

c.1785C>A

3 papers

NM_000251.3

p.N596insFs

c.1787dupA

1 paper

NM_000251.3

p.L595_N596insFs

c.1785_1786ins14

1 paper

NM_000251.3

p.N596delFs

c.1787delA

79 papers

NM_000251.3

p.N596del1

c.1786_1787delAAT

3 papers

NM_000251.3

p.L595P

c.1784T>C