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.I577delFs

c.1729delA

Surrounding Variants

1 paper

NM_000251.3

p.I577fs

c.1729_1730fs

2 papers

NM_000251.3

p.I577insFs

c.1731dupT

3 papers

NM_000251.3

p.I577V

c.1729A>G

2 papers

NM_000251.3

p.I577fs

c.1729_1730fs

2 papers

NM_000251.3

p.A576P

c.1726G>C

2 papers

NM_000251.3

p.A576insFs

c.1728dupC

1 paper

NM_000251.3

p.A576delFs

c.1728delC

19 papers

NM_000251.3

p.I577T

c.1730T>C

1 paper

NM_000251.3

p.I577_V578Fs

c.1731_1732delinsAGTFs

1 paper

NM_000251.3

p.D575insFs

c.1725dupT

4 papers

NM_000251.3

p.D575G

c.1724A>G

1 paper

NM_000251.3

p.D575delFs

c.1725delT