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.I883F

c.2647A>T

Surrounding Variants

5 papers

NM_000251.3

p.I883fs

c.2647_2648fs

1 paper

NM_000251.3

p.I883fs

c.2647_2648fs

1 paper

NM_000251.3

p.I883S

c.2648T>G

7 papers

NM_000251.3

p.I883M

c.2649T>G

1 paper

NM_000251.3

p.K882_I883insSVA

c.2644_2648ins9

1 paper

NM_000251.3

p.I884_Q885ins8

c.2650_2654ins24

1 paper

NM_000251.3

p.K882_Q885del0

c.2645_2653del9

2 papers

NM_000251.3

p.I884T

c.2651T>C

7 papers

NM_000251.3

p.I884S

c.2651T>G

9 papers

NM_000251.3

p.Q885*

c.2653C>T

4 papers

NM_000251.3

p.I883insFs

c.2647dupA

1 paper

NM_000251.3

p.E881_K882insFs

c.2642_2645dup4