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.P202A

c.604C>G

Surrounding Variants

1 paper

NM_000251.3

p.P202S

c.604C>T

1 paper

NM_000251.3

p.L201F

c.603A>C

1 paper

NM_000251.3

p.L201F

c.603A>T

1 paper

NM_000251.3

p.P202delFs

c.604delC

3 papers

NM_000251.3

p.P202R

c.605C>G

1 paper

NM_000251.3

p.P202L

c.605C>T

1 paper

NM_000251.3

p.P202P

c.606C>G

2 papers

NM_000251.3

p.P202P

c.606C>T

2 papers

NM_000251.3

p.G203_G204del1

c.609_611delAGG

1 paper

NM_000251.3

p.G203_G204del2

c.607_611del6

2 papers

NM_000251.3

p.L201*

c.602T>A

2 papers

NM_000251.3

p.L201*

c.602T>G