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.T897N

c.2690C>A

Surrounding Variants

1 paper

NM_000251.3

p.T897insFs

c.2690_2691insG

1 paper

NM_000251.3

p.T897insFs

c.2690dupC

1 paper

NM_000251.3

p.E898delFs

c.2692_2693delGA

1 paper

NM_000251.3

p.E898_L908del11

c.2692_2723del33

1 paper

NM_000251.3

p.E898delFs

c.2693delA

1 paper

NM_000251.3

p.F896L

c.2688T>A

1 paper

NM_000251.3

p.F896L

c.2688T>G

1 paper

NM_000251.3

p.E898D

c.2694A>C

1 paper

NM_000251.3

p.F896L

c.2686T>C

1 paper

NM_000251.3

p.F896_T897delFs

c.2687_2690del4

4 papers

NM_000251.3

p.P895L

c.2684C>T

1 paper

NM_000251.3

p.P895T

c.2683C>A