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.I274M

c.822C>G

Surrounding Variants

3 papers

NM_000251.3

p.K275Q

c.823A>C

1 paper

NM_000251.3

p.K275*

c.823A>T

1 paper

NM_000251.3

p.I274insFs

c.821_822insG

2 papers

NM_000251.3

p.I274fs

c.820_821fs

1 paper

NM_000251.3

p.K275insFs

c.824_825ins10

1 paper

NM_000251.3

p.I274L

c.820A>C

1 paper

NM_000251.3

p.K275T

c.824A>C

2 papers

NM_000251.3

p.I274V

c.820A>G

1 paper

NM_000251.3

p.K275R

c.824A>G

1 paper

NM_000251.3

p.I274fs

c.820_821fs

2 papers

NM_000251.3

p.V273V

c.819A>G

3 papers

NM_000251.3

p.V273_I274Fs

c.819_821delinsTGFs