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.Q377delFs

c.1129_1130delCA

Surrounding Variants

1 paper

NM_000251.3

p.L376*

c.1127T>A

2 papers

NM_000251.3

p.L376S

c.1127T>C

1 paper

NM_000251.3

p.L376*

c.1127T>G

2 papers

NM_000251.3

p.L376insFs

c.1127_1128ins7

1 paper

NM_000251.3

p.L376_Q377insFs

c.1128_1129dupAC

1 paper

NM_000251.3

p.Q377del1

c.1129_1130delCAA

1 paper

NM_000251.3

p.L376_E378delFs

c.1128_1132del5

1 paper

NM_000251.3

p.Q377_E378del2

c.1129_1133del6

1 paper

NM_000251.3

p.L376V

c.1126T>G

2 papers

NM_000251.3

p.L376fs

c.1126_1127fs

3 papers

NM_000251.3

p.L376insFs

c.1127_1128dupTA

4 papers

NM_000251.3

p.L376fs

c.1126_1127fs