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.M663I

c.1989G>T

Surrounding Variants

2 papers

NM_000251.3

p.M663I

c.1989G>A

2 papers

NM_000251.3

p.M663I

c.1989G>C

1 paper

NM_000251.3

p.M663T

c.1988T>C

2 papers

NM_000251.3

p.M663delFs

c.1989delG

1 paper

NM_000251.3

p.F664delFs

c.1991_1992delTC

4 papers

NM_000251.3

p.M663fs

c.1987_1988fs

1 paper

NM_000251.3

p.M663delFs

c.1988delT

3 papers

NM_000251.3

p.M663fs

c.1987_1988fs

1 paper

NM_000251.3

p.F664Y

c.1991T>A

2 papers

NM_000251.3

p.H665delFs

c.1993delC

1 paper

NM_000251.3

p.F664F

c.1992C>T

1 paper

NM_000251.3

p.H665delFs

c.1994_1995delAC