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.Q348R

c.1043A>G

Surrounding Variants

1 paper

NM_000251.3

p.Q348K

c.1042C>A

1 paper

NM_000251.3

p.Q348fs

c.1042_1043fs

2 papers

NM_000251.3

p.Q348E

c.1042C>G

9 papers

NM_000251.3

p.Q348*

c.1042C>T

3 papers

NM_000251.3

p.Q348delFs

c.1043delA

1 paper

NM_000251.3

p.Q348fs

c.1042_1043fs

4 papers

NM_000251.3

p.P349insFs

c.1046dupC

2 papers

NM_000251.3

p.P349T

c.1045C>A

1 paper

NM_000251.3

p.P349fs

c.1045_1046fs

28 papers

NM_000251.3

p.P349A

c.1045C>G

3 papers

NM_000251.3

p.P349S

c.1045C>T

2 papers

NM_000251.3

p.L350delFs

c.1049_1050delTC