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.P69L

c.206C>T

Surrounding Variants

2 papers

NM_000251.3

p.P69Q

c.206C>A

1 paper

NM_000251.3

p.P69R

c.206C>G

1 paper

NM_000251.3

p.P69T

c.205C>A

4 papers

NM_000251.3

p.P69fs

c.205_206fs

1 paper

NM_000251.3

p.P69S

c.205C>T

3 papers

NM_000251.3

p.P69fs

c.205_206fs

1 paper

NM_000251.3

p.P69P

c.207G>A

1 paper

NM_000251.3

p.P69insFs

c.205dupC

1 paper

NM_000251.3

p.A70S

c.208G>T

2 papers

NM_000251.3

p.P69delFs

c.206delC

1 paper

NM_000251.3

p.A70E

c.209C>A

2 papers

NM_000251.3

p.G68E

c.203G>A