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.L280fs

c.838_839fs

Surrounding Variants

1 paper

NM_000251.3

p.L280insFs

c.838_839insTG

3 papers

NM_000251.3

p.L280fs

c.838_839fs

1 paper

NM_000251.3

p.L280_S281delFs

c.840_841delAT

3 papers

NM_000251.3

p.L280insFs

c.839dupT

3 papers

NM_000251.3

p.L280delFs

c.838delT

2 papers

NM_000251.3

p.L280*

c.839T>A

2 papers

NM_000251.3

p.L280*

c.839T>G

1 paper

NM_000251.3

p.L280delFs

c.840delA

1 paper

NM_000251.3

p.S281del1

c.841_843delTCA

1 paper

NM_000251.3

p.L280_D282del0

c.840_845del6

2 papers

NM_000251.3

p.L280_S281insFs

c.840_841insT

1 paper

NM_000251.3

p.L279H

c.836T>A