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

3 papers

NM_000251.3

p.A309D

c.926C>A

Surrounding Variants

3 papers

NM_000251.3

p.A309G

c.926C>G

3 papers

NM_000251.3

p.A309V

c.926C>T

1 paper

NM_000251.3

p.N311_L312del2

c.931_935del6

1 paper

NM_000251.3

p.A309A

c.927C>T

1 paper

NM_000251.3

p.L310delFs

c.928_929delCT

2 papers

NM_000251.3

p.A309T

c.925G>A

2 papers

NM_000251.3

p.A309P

c.925G>C

1 paper

NM_000251.3

p.A309insFs

c.927dupC

1 paper

NM_000251.3

p.A309fs

c.925_926fs

3 papers

NM_000251.3

p.L310delFs

c.928delC

2 papers

NM_000251.3

p.A309delins

c.925_926delinsTG

1 paper

NM_000251.3

p.A309fs

c.925_926fs