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

2 papers

NM_000251.3

p.Q4Fs

c.11_12delinsCFs

Surrounding Variants

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

1 paper

NM_000251.3

p.P5del1

c.13_14delCCG

1 paper

NM_000251.3

p.Q4_P5delFs

c.12_15del4

2 papers

NM_000251.3

p.Q4K

c.10C>A

3 papers

NM_000251.3

p.Q4insFs

c.11dupA

1 paper

NM_000251.3

p.Q4fs

c.10_11fs

1 paper

NM_000251.3

p.Q4E

c.10C>G

10 papers

NM_000251.3

p.Q4*

c.10C>T

1 paper

NM_000251.3

p.Q4fs

c.10_11fs

15 papers

NM_000251.3

p.Q4Q

c.12G>A