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.K892Q

c.2674A>C

Surrounding Variants

1 paper

NM_000251.3

p.K892*

c.2674A>T

1 paper

NM_000251.3

p.K892R

c.2675A>G

1 paper

NM_000251.3

p.Q893delFs

c.2677_2678delCA

1 paper

NM_000251.3

p.V891G

c.2672T>G

1 paper

NM_000251.3

p.V891_K892Fs

c.2672_2674delinsCFs

6 papers

NM_000251.3

p.M894insFs

c.2680_2681insA

1 paper

NM_000251.3

p.Q893fs

c.2677_2678fs

1 paper

NM_000251.3

p.Q893*

c.2677C>T

1 paper

NM_000251.3

p.K890K

c.2670G>A

1 paper

NM_000251.3

p.K890N

c.2670G>C

1 paper

NM_000251.3

p.K890N

c.2670G>T

1 paper

NM_000251.3

p.K890R

c.2669A>G