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.I691Fs

c.2072_2073delinsATTAFs

Surrounding Variants

2 papers

NM_000251.3

p.I691T

c.2072T>C

1 paper

NM_000251.3

p.I691insFs

c.2071_2072insG

2 papers

NM_000251.3

p.I691fs

c.2071_2072fs

1 paper

NM_000251.3

p.I691fs

c.2071_2072fs

3 papers

NM_000251.3

p.G692_F694delFs

c.2074_2081del8

1 paper

NM_000251.3

p.I691M

c.2073T>G

1 paper

NM_000251.3

p.G692delFs

c.2075_2076delGG

1 paper

NM_000251.3

p.G692_C693delFs

c.2074_2078del5

1 paper

NM_000251.3

p.Q690_I691insFs

c.2070_2071insTT

1 paper

NM_000251.3

p.I691_F694del4

c.2071_2081del12

27 papers

NM_000251.3

p.G692R

c.2074G>A

24 papers

NM_000251.3

p.G692R

c.2074G>C