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.E901*

c.2701G>T

Surrounding Variants

2 papers

NM_000251.3

p.E901K

c.2701G>A

2 papers

NM_000251.3

p.E901V

c.2702A>T

1 paper

NM_000251.3

p.E901delFs

c.2701delG

1 paper

NM_000251.3

p.E901D

c.2703A>C

1 paper

NM_000251.3

p.E901D

c.2703A>T

3 papers

NM_000251.3

p.S900*

c.2699C>A

2 papers

NM_000251.3

p.S900*

c.2699C>G

1 paper

NM_000251.3

p.S900L

c.2699C>T

1 paper

NM_000251.3

p.E902K

c.2704G>A

2 papers

NM_000251.3

p.E902*

c.2704G>T

1 paper

NM_000251.3

p.S900T

c.2698T>A

2 papers

NM_000251.3

p.S900A

c.2698T>G