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

7 papers

NM_000251.3

p.S699*

c.2096C>G

Surrounding Variants

7 papers

NM_000251.3

p.S699*

c.2096C>A

1 paper

NM_000251.3

p.S699L

c.2096C>T

1 paper

NM_001258281.1

p.S633_A634delFs

c.1899_1900delAG

3 papers

NM_000251.3

p.S699P

c.2095T>C

2 papers

NM_000251.3

p.E698E

c.2094G>A

2 papers

NM_000251.3

p.A700T

c.2098G>A

1 paper

NM_000251.3

p.A700P

c.2098G>C

1 paper

NM_000251.3

p.A700delFs

c.2099delC

1 paper

NM_000251.3

p.A700_E701delFs

c.2099_2102del4

1 paper

NM_000251.3

p.E698A

c.2093A>C

1 paper

NM_000251.3

p.E698delFs

c.2094delG

5 papers

NM_000251.3

p.A700E

c.2099C>A