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

3 papers

NM_000251.3

p.V532V

c.1596C>T

Surrounding Variants

1 paper

NM_000251.3

p.L533I

c.1597C>A

1 paper

NM_000251.3

p.L533fs

c.1597_1598fs

7 papers

NM_000251.3

p.L533V

c.1597C>G

1 paper

NM_000251.3

p.L533F

c.1597C>T

2 papers

NM_000251.3

p.L533delFs

c.1599delT

1 paper

NM_000251.3

p.L533fs

c.1597_1598fs

1 paper

NM_000251.3

p.V532D

c.1595T>A

5 papers

NM_000251.3

p.V532A

c.1595T>C

2 papers

NM_000251.3

p.L533insFs

c.1597dupC

1 paper

NM_000251.3

p.V532insFs

c.1595_1596insG

1 paper

NM_000251.3

p.L533delFs

c.1597delC

1 paper

NM_000251.3

p.V532_L533delFs

c.1596_1597delCC