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

6 papers

NM_000251.3

p.A230_D231Fs

c.689_691delinsTTFs

Surrounding Variants

1 paper

NM_000251.3

p.A230G

c.689C>G

1 paper

NM_000251.3

p.A230V

c.689C>T

1 paper

NM_000251.3

p.A230_D231delFs

c.690_691delTG

1 paper

NM_000251.3

p.D231_F232del2

c.691_695del6

1 paper

NM_000251.3

p.A230T

c.688G>A

2 papers

NM_000251.3

p.A230P

c.688G>C

1 paper

NM_000251.3

p.A230insFs

c.688_689insA

8 papers

NM_000251.3

p.A230fs

c.688_689fs

1 paper

NM_000251.3

p.A230S

c.688G>T

2 papers

NM_000251.3

p.A230delFs

c.689delC

19 papers

NM_000251.3

p.A230fs

c.688_689fs

1 paper

NM_000251.3

p.D231_F232delFs

c.691_694del4