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.L279fs

c.835_836fs

Surrounding Variants

8 papers

NM_000251.3

p.L279V

c.835C>G

1 paper

NM_000251.3

p.L279F

c.835C>T

6 papers

NM_000251.3

p.L279delFs

c.836delT

1 paper

NM_000251.3

p.L279fs

c.835_836fs

18 papers

NM_000251.3

p.E278D

c.834A>T

1 paper

NM_000251.3

p.L279_L280delFs

c.837_838delCT

1 paper

NM_000251.3

p.L279H

c.836T>A

1 paper

NM_000251.3

p.E278G

c.833A>G

2 papers

NM_000251.3

p.L279_S281del3

c.835_842del9

3 papers

NM_000251.3

p.L280insFs

c.839dupT

3 papers

NM_000251.3

p.L280delFs

c.838delT

5 papers

NM_000251.3

p.E278K

c.832G>A