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.F694fs

c.2080_2081fs

Surrounding Variants

1 paper

NM_000251.3

p.F694L

c.2080T>C

3 papers

NM_000251.3

p.F694fs

c.2080_2081fs

2 papers

NM_000251.3

p.C693*

c.2079T>A

7 papers

NM_000251.3

p.F694S

c.2081T>C

1 paper

NM_000251.3

p.F694_A700del7

c.2080_2099del21

3 papers

NM_000251.3

p.C693Y

c.2078G>A

2 papers

NM_000251.3

p.C693insFs

c.2079dupT

5 papers

NM_000251.3

p.F694delFs

c.2082delT

1 paper

NM_000251.3

p.F694F

c.2082T>C

7 papers

NM_000251.3

p.V695M

c.2083G>A

1 paper

NM_000251.3

p.V695L

c.2083G>C

3 papers

NM_000251.3

p.V695L

c.2083G>T