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.Y678delFs

c.2033delA

Surrounding Variants

1 paper

NM_000251.3

p.Y678N

c.2032T>A

2 papers

NM_000251.3

p.Y678H

c.2032T>C

1 paper

NM_000251.3

p.Y678C

c.2033A>G

1 paper

NM_000251.3

p.Y678delFs

c.2032delT

3 papers

NM_000251.3

p.T677R

c.2030C>G

4 papers

NM_000251.3

p.I679delFs

c.2035_2036delAT

5 papers

NM_000251.3

p.Y678*

c.2034T>A

5 papers

NM_000251.3

p.Y678*

c.2034T>G

1 paper

NM_000251.3

p.T677insFs

c.2030dupC

4 papers

NM_000251.3

p.I679fs

c.2035_2036fs

2 papers

NM_000251.3

p.T677A

c.2029A>G

1 paper

NM_000251.3

p.T677S

c.2029A>T