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.E572del1

c.1714_1715delGAA

Surrounding Variants

4 papers

NM_000251.3

p.Y570*

c.1710T>A

4 papers

NM_000251.3

p.Y570*

c.1710T>G

1 paper

NM_000251.3

p.E571insFs

c.1711_1712insG

3 papers

NM_000251.3

p.E571_A573del3

c.1711_1718del9

1 paper

NM_000251.3

p.Y570C

c.1709A>G

1 paper

NM_000251.3

p.Y570delFs

c.1710delT

2 papers

NM_000251.3

p.E571*

c.1711G>T

1 paper

NM_000251.3

p.E571delFs

c.1713delA

1 paper

NM_000251.3

p.Y570D

c.1708T>G

1 paper

NM_000251.3

p.Y570insFs

c.1709dupA

3 papers

NM_000251.3

p.Y570fs

c.1708_1709fs

2 papers

NM_000251.3

p.Y570fs

c.1708_1709fs