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

17 papers

NM_000251.3

p.N388_R389del2

c.1162_1166del6

Surrounding Variants

3 papers

NM_000251.3

p.N388insFs

c.1163_1164insA

2 papers

NM_000251.3

p.N388fs

c.1162_1163fs

2 papers

NM_000251.3

p.N388H

c.1162A>C

2 papers

NM_000251.3

p.N388fs

c.1162_1163fs

1 paper

NM_000251.3

p.L387H

c.1160T>A

1 paper

NM_000251.3

p.L387P

c.1160T>C

1 paper

NM_000251.3

p.L387R

c.1160T>G

1 paper

NM_000251.3

p.L387_R389Fs

c.1160_1166delinsCATAAFs

1 paper

NM_000251.3

p.N388S

c.1163A>G

2 papers

NM_000251.3

p.R389delFs

c.1165delC

5 papers

NM_000251.3

p.L387V

c.1159C>G

2 papers

NM_000251.3

p.L387F

c.1159C>T