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.K909I

c.2726A>T

Surrounding Variants

1 paper

NM_000251.3

p.K909_Q910delFs

c.2727_2728delAC

1 paper

NM_000251.3

p.K909N

c.2727A>C

1 paper

NM_000251.3

p.K909N

c.2727A>T

1 paper

NM_000251.3

p.Q910K

c.2728C>A

1 paper

NM_000251.3

p.Q910_L911insFs

c.2730_2731insAG

2 papers

NM_000251.3

p.Q910fs

c.2728_2729fs

1 paper

NM_000251.3

p.Q910E

c.2728C>G

1 paper

NM_000251.3

p.Q910delFs

c.2729delA

1 paper

NM_000251.3

p.Q910fs

c.2728_2729fs

1 paper

NM_000251.3

p.L908*

c.2723T>A

1 paper

NM_000251.3

p.L908*

c.2723T>G

2 papers

NM_000251.3

p.K909insFs

c.2727dupA