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.L9_Q10insFs

c.27_28ins17

Surrounding Variants

2 papers

NM_000251.3

p.L9L

c.27G>A

1 paper

NM_000251.3

p.L9L

c.27G>C

1 paper

NM_000251.3

p.L9_Q10ins1

c.27_28insGTA

1 paper

NM_000251.3

p.L9L

c.27G>T

3 papers

NM_000251.3

p.Q10K

c.28C>A

4 papers

NM_000251.3

p.Q10insFs

c.29_30insA

1 paper

NM_000251.3

p.Q10fs

c.28_29fs

1 paper

NM_000251.3

p.Q10E

c.28C>G

11 papers

NM_000251.3

p.Q10*

c.28C>T

2 papers

NM_000251.3

p.Q10delFs

c.29delA

1 paper

NM_000251.3

p.Q10fs

c.28_29fs

1 paper

NM_000251.3

p.L9Q

c.26T>A