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.I926delFs

c.2776delA

Surrounding Variants

2 papers

NM_000251.3

p.E925*

c.2773G>T

1 paper

NM_000251.3

p.N924_E925delFs

c.2772_2773delTG

2 papers

NM_000251.3

p.N924fs

c.2770_2771fs

1 paper

NM_000251.3

p.I926fs

c.2776_2777fs

2 papers

NM_000251.3

p.I926N

c.2777T>A

1 paper

NM_000251.3

p.I927insFs

c.2779dupA

11 papers

NM_000251.3

p.V923E

c.2768T>A

1 paper

NM_000251.3

p.V923A

c.2768T>C

1 paper

NM_000251.3

p.N924insFs

c.2771dupA

1 paper

NM_000251.3

p.N924delFs

c.2771delA

1 paper

NM_000251.3

p.I927V

c.2779A>G

1 paper

NM_000251.3

p.I927fs

c.2779_2780fs