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.I169I

c.507A>T

Surrounding Variants

2 papers

NM_000251.3

p.Q170insFs

c.508_509ins4

5 papers

NM_000251.3

p.I169M

c.507A>G

1 paper

NM_000251.3

p.Q170_D182del13

c.508_545del39

1 paper

NM_000251.3

p.Q170K

c.508C>A

1 paper

NM_000251.3

p.Q170fs

c.508_509fs

6 papers

NM_000251.3

p.Q170E

c.508C>G

17 papers

NM_000251.3

p.Q170*

c.508C>T

1 paper

NM_000251.3

p.Q170delFs

c.509delA

1 paper

NM_000251.3

p.Q170delFs

c.509_510delAG

2 papers

NM_000251.3

p.Q170fs

c.508_509fs

2 papers

NM_000251.3

p.I169T

c.506T>C

1 paper

NM_000251.3

p.I169delFs

c.507delA