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

19 papers

NM_000251.3

p.Q4H

c.12G>C

Surrounding Variants

15 papers

NM_000251.3

p.Q4Q

c.12G>A

1 paper

NM_000251.3

p.Q4H

c.12G>T

1 paper

NM_000251.3

p.P5delFs

c.14delC

1 paper

NM_000251.3

p.Q4_P5insFs

c.12_13insTG

1 paper

NM_000251.3

p.Q4P

c.11A>C

3 papers

NM_000251.3

p.Q4L

c.11A>T

2 papers

NM_000251.3

p.Q4Fs

c.11_12delinsCFs

1 paper

NM_000251.3

p.P5del1

c.13_14delCCG

1 paper

NM_000251.3

p.Q4_P5delFs

c.12_15del4

1 paper

NM_000251.3

p.P5fs

c.13_14fs

2 papers

NM_000251.3

p.P5A

c.13C>G

1 paper

NM_000251.3

p.P5S

c.13C>T