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.L312delFs

c.934delC

Surrounding Variants

2 papers

NM_000251.3

p.N311S

c.932A>G

3 papers

NM_000251.3

p.N311fs

c.931_932fs

2 papers

NM_000251.3

p.N311D

c.931A>G

1 paper

NM_000251.3

p.N311fs

c.931_932fs

1 paper

NM_000251.3

p.N311_L312del1

c.932_934delACC

1 paper

NM_000251.3

p.N311_F313delFs

c.932_939del8

1 paper

NM_000251.3

p.N311K

c.933C>A

1 paper

NM_000251.3

p.N311K

c.933C>G

1 paper

NM_000251.3

p.N311N

c.933C>T

1 paper

NM_000251.3

p.L312I

c.934C>A

2 papers

NM_000251.3

p.L312fs

c.934_935fs

2 papers

NM_000251.3

p.F313insFs

c.939dupT