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.I418M

c.1254A>G

Surrounding Variants

1 paper

NM_000251.3

p.Q419delFs

c.1255delC

41 papers

NM_000251.3

p.Q419K

c.1255C>A

1 paper

NM_000251.3

p.Q419_A420insT

c.1255_1259ins3

2 papers

NM_000251.3

p.Q419E

c.1255C>G

14 papers

NM_000251.3

p.Q419*

c.1255C>T

1 paper

NM_000251.3

p.Q419fs

c.1255_1256fs

2 papers

NM_000251.3

p.I418T

c.1253T>C

1 paper

NM_000251.3

p.I418_Q419delFs

c.1254_1255delAC

1 paper

NM_000251.3

p.Q419_K423delFs

c.1255_1268del14

3 papers

NM_000251.3

p.I418fs

c.1252_1253fs

1 paper

NM_000251.3

p.I418L

c.1252A>C

1 paper

NM_000251.3

p.I418V

c.1252A>G