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

3 papers

NM_000251.3

p.F394L

c.1180T>C

Surrounding Variants

1 paper

NM_000251.3

p.K393N

c.1179G>C

2 papers

NM_000251.3

p.K393N

c.1179G>T

1 paper

NM_000251.3

p.F394delFs

c.1181delT

1 paper

NM_000251.3

p.F394_Q395del2

c.1180_1184del6

2 papers

NM_000251.3

p.F394S

c.1181T>C

1 paper

NM_000251.3

p.K393_F394insFs

c.1179_1180dupGT

1 paper

NM_000251.3

p.K393T

c.1178A>C

7 papers

NM_000251.3

p.K393M

c.1178A>T

3 papers

NM_000251.3

p.F394L

c.1182T>A

3 papers

NM_000251.3

p.F394L

c.1182T>G

1 paper

NM_000251.3

p.K393fs

c.1177_1178fs

1 paper

NM_000251.3

p.K393_F394insC

c.1177_1181ins3