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.E569fs

c.1705_1706fs

Surrounding Variants

1 paper

NM_000251.3

p.E569K

c.1705G>A

4 papers

NM_000251.3

p.E569insFs

c.1705_1706insT

1 paper

NM_000251.3

p.E569*

c.1705G>T

2 papers

NM_000251.3

p.E569delFs

c.1706delA

17 papers

NM_000251.3

p.E569fs

c.1705_1706fs

2 papers

NM_000251.3

p.E569G

c.1706A>G

1 paper

NM_000251.3

p.E569V

c.1706A>T

3 papers

NM_000251.3

p.Y570delFs

c.1708delT

1 paper

NM_000251.3

p.T568insFs

c.1703_1704insA

3 papers

NM_000251.3

p.E569insFs

c.1705_1706dupGA

1 paper

NM_000251.3

p.T568R

c.1703C>G

1 paper

NM_000251.3

p.T568I

c.1703C>T