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.V273_I274Fs

c.819_821delinsTGFs

Surrounding Variants

2 papers

NM_000251.3

p.V273V

c.819A>G

3 papers

NM_000251.3

p.I274_F276del3

c.820_827del9

2 papers

NM_000251.3

p.I274fs

c.820_821fs

1 paper

NM_000251.3

p.I274L

c.820A>C

2 papers

NM_000251.3

p.I274V

c.820A>G

1 paper

NM_000251.3

p.I274fs

c.820_821fs

2 papers

NM_000251.3

p.V273E

c.818T>A

3 papers

NM_000251.3

p.V273A

c.818T>C

2 papers

NM_000251.3

p.I274_K275insFs

c.821_824dup4

4 papers

NM_000251.3

p.V273I

c.817G>A

1 paper

NM_000251.3

p.V273fs

c.817_818fs

1 paper

NM_000251.3

p.V273ins1

c.818_819insCTT