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

5 papers

NM_000251.3

p.E561*

c.1681G>T

Surrounding Variants

16 papers

NM_000251.3

p.E561K

c.1681G>A

1 paper

NM_000251.3

p.E561fs

c.1681_1682fs

1 paper

NM_000251.3

p.E561_E562insSVA

c.1681_1685ins9

6 papers

NM_000251.3

p.E561delFs

c.1683delA

1 paper

NM_000251.3

p.E561V

c.1682A>T

8 papers

NM_000251.3

p.N560N

c.1680T>C

1 paper

NM_000251.3

p.E561insFs

c.1681_1682dupGA

3 papers

NM_000251.3

p.E561_E569del9

c.1681_1706del27

1 paper

NM_000251.3

p.N560delFs

c.1680delT

1 paper

NM_000251.3

p.N560H

c.1678A>C

3 papers

NM_000251.3

p.N560fs

c.1678_1679fs

1 paper

NM_000251.3

p.E562Q

c.1684G>C