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

5 papers

NM_000251.3

p.T905I

c.2714C>T

Surrounding Variants

20 papers

NM_000251.3

p.T905R

c.2714C>G

1 paper

NM_000251.3

p.I906_K907del2

c.2716_2720del6

1 paper

NM_000251.3

p.I906_K907insT

c.2716_2720ins3

1 paper

NM_000251.3

p.I906fs

c.2716_2717fs

1 paper

NM_000251.3

p.I904M

c.2712C>G

1 paper

NM_000251.3

p.I906T

c.2717T>C

1 paper

NM_000251.3

p.K907delFs

c.2719delA

1 paper

NM_000251.3

p.K907delFs

c.2719_2720delAA

2 papers

NM_000251.3

p.I906M

c.2718A>G

1 paper

NM_000251.3

p.I904V

c.2710A>G

1 paper

NM_000251.3

p.I904F

c.2710A>T

2 papers

NM_000251.3

p.K907delFs

c.2721delG