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

1 paper

NM_000251.3

p.N388K

c.1164C>G

Surrounding Variants

1 paper

NM_000251.3

p.N388K

c.1164C>A

2 papers

NM_000251.3

p.N388_R389delins

c.1164_1165delinsGT

1 paper

NM_000251.3

p.N388S

c.1163A>G

2 papers

NM_000251.3

p.R389delFs

c.1165delC

80 papers

NM_000251.3

p.R389*

c.1165C>T

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

11 papers

NM_000251.3

p.R389Q

c.1166G>A

1 paper

NM_000251.3

p.R389L

c.1166G>T

1 paper

NM_000251.3

p.L390insFs

c.1168dupC

2 papers

NM_000251.3

p.R389R

c.1167A>G