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

2 papers

NM_000251.3

p.K301N

c.903A>T

Surrounding Variants

2 papers

NM_000251.3

p.K301N

c.903A>C

1 paper

NM_000251.3

p.K301R

c.902A>G

1 paper

NM_000251.3

p.L302_A306del5

c.904_917del15

2 papers

NM_000251.3

p.L302M

c.904T>A

2 papers

NM_000251.3

p.L302L

c.904T>C

6 papers

NM_000251.3

p.K301*

c.901A>T

2 papers

NM_000251.3

p.K301fs

c.901_902fs

7 papers

NM_000251.3

p.L302*

c.905T>A

2 papers

NM_000251.3

p.L302S

c.905T>C

1 paper

NM_000251.3

p.L302_D303delFs

c.906_907delGG

4 papers

NM_000251.3

p.M300I

c.900G>A

2 papers

NM_000251.3

p.L302L

c.906G>A