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.L277S

c.830T>C

Surrounding Variants

8 papers

NM_000251.3

p.L277*

c.830T>A

10 papers

NM_000251.3

p.L277*

c.830T>G

2 papers

NM_000251.3

p.E278delFs

c.832_833delGA

1 paper

NM_000251.3

p.L277F

c.831A>T

2 papers

NM_000251.3

p.E278delFs

c.832delG

2 papers

NM_000251.3

p.E278_L279del2

c.832_836del6

5 papers

NM_000251.3

p.E278K

c.832G>A

1 paper

NM_000251.3

p.E278insFs

c.833_834dupAA

1 paper

NM_000251.3

p.E278fs

c.832_833fs

7 papers

NM_000251.3

p.E278*

c.832G>T

1 paper

NM_000251.3

p.E278fs

c.832_833fs

1 paper

NM_000251.3

p.F276F

c.828T>C