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

4 papers

NM_000251.3

p.I691insFs

c.2071_2072insA

Surrounding Variants

7 papers

NM_000251.3

p.Q690E

c.2068C>G

4 papers

NM_000251.3

p.Q690*

c.2068C>T

5 papers

NM_000251.3

p.Q690R

c.2069A>G

1 paper

NM_000251.3

p.Q690_I691del2

c.2068_2072del6

1 paper

NM_000251.3

p.Q690_I691insFs

c.2070_2071insTT

1 paper

NM_000251.3

p.I691_F694del4

c.2071_2081del12

2 papers

NM_000251.3

p.A689D

c.2066C>A

1 paper

NM_000251.3

p.A689V

c.2066C>T

1 paper

NM_000251.3

p.A689_I691delFs

c.2067_2073del7

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