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.S268A

c.802T>G

Surrounding Variants

1 paper

NM_000251.3

p.S268P

c.802T>C

6 papers

NM_000251.3

p.S268*

c.803C>A

4 papers

NM_000251.3

p.S268*

c.803C>G

8 papers

NM_000251.3

p.S268L

c.803C>T

1 paper

NM_000251.3

p.S268S

c.804A>G

1 paper

NM_000251.3

p.S268S

c.804A>T

1 paper

NM_000251.3

p.V267I

c.799G>A

2 papers

NM_000251.3

p.S268insFs

c.802_803insT

2 papers

NM_000251.3

p.S268delFs

c.802delT

1 paper

NM_000251.3

p.A266A

c.798A>T

6 papers

NM_000251.3

p.S269*

c.806C>A

2 papers

NM_000251.3

p.S269insFs

c.806_807insA