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.L401fs

c.1201_1202fs

Surrounding Variants

2 papers

NM_000251.3

p.L401fs

c.1201_1202fs

3 papers

NM_000251.3

p.N400K

c.1200C>A

3 papers

NM_000251.3

p.L401insFs

c.1201_1202dupTT

3 papers

NM_000251.3

p.N400K

c.1200C>G

12 papers

NM_000251.3

p.L401insFs

c.1203dupA

7 papers

NM_000251.3

p.Q402delFs

c.1204delC

1 paper

NM_000251.3

p.N400_Y405delFs

c.1200_1213del14

2 papers

NM_000251.3

p.N400fs

c.1198_1199fs

1 paper

NM_000251.3

p.N400D

c.1198A>G

1 paper

NM_000251.3

p.N400fs

c.1198_1199fs

3 papers

NM_000251.3

p.L401_Q402delFs

c.1201_1204del4

1 paper

NM_000251.3

p.N400_L407Fs

c.1198_1219delinsTCATCFs