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

2 papers

NM_000251.3

p.Q601insFs

c.1803dupG

Surrounding Variants

1 paper

NM_000251.3

p.Q601R

c.1802A>G

1 paper

NM_000251.3

p.Q601delFs

c.1803delG

2 papers

NM_000251.3

p.Q601fs

c.1801_1802fs

1 paper

NM_000251.3

p.Q601E

c.1801C>G

18 papers

NM_000251.3

p.Q601*

c.1801C>T

3 papers

NM_000251.3

p.Q601fs

c.1801_1802fs

1 paper

NM_000251.3

p.Q601Q

c.1803G>A

1 paper

NM_000251.3

p.Q601H

c.1803G>C

1 paper

NM_000251.3

p.Q601H

c.1803G>T

2 papers

NM_000251.3

p.L602delFs

c.1804_1805delCT

1 paper

NM_000251.3

p.L602_D603del2

c.1804_1808del6

1 paper

NM_000251.3

p.L602fs

c.1804_1805fs