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.I916insFs

c.2748dupA

Surrounding Variants

1 paper

NM_000251.3

p.A917insFs

c.2749dupG

1 paper

NM_000251.3

p.A917T

c.2749G>A

1 paper

NM_000251.3

p.V915_I916delFs

c.2743_2747del5

1 paper

NM_000251.3

p.E914K

c.2740G>A

1 paper

NM_000251.3

p.K918K

c.2754G>A

4 papers

NM_000251.3

p.K918N

c.2754G>C

2 papers

NM_000251.3

p.E914fs

c.2740_2741fs

4 papers

NM_000251.3

p.K918N

c.2754G>T

2 papers

NM_000251.3

p.E914*

c.2740G>T

1 paper

NM_000251.3

p.N920del1

c.2758_2759delAAT

1 paper

NM_000251.3

p.A913_E914insFs

c.2739_2740insA

2 papers

NM_000251.3

p.E914delFs

c.2740delG