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.K909insFs

c.2727dupA

Surrounding Variants

1 paper

NM_000251.3

p.L908*

c.2723T>A

1 paper

NM_000251.3

p.L908*

c.2723T>G

1 paper

NM_000251.3

p.K909_Q910delFs

c.2725_2729del5

1 paper

NM_000251.3

p.L908_K909del2

c.2722_2726del6

3 papers

NM_000251.3

p.K909I

c.2726A>T

1 paper

NM_000251.3

p.K909_Q910delFs

c.2727_2728delAC

2 papers

NM_000251.3

p.K907delFs

c.2721delG

1 paper

NM_000251.3

p.K909N

c.2727A>C

1 paper

NM_000251.3

p.K909N

c.2727A>T

2 papers

NM_000251.3

p.I906M

c.2718A>G

1 paper

NM_000251.3

p.Q910K

c.2728C>A

1 paper

NM_000251.3

p.Q910_L911insFs

c.2730_2731insAG