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_001258281.1

p.R468fs

c.1402_1403fs

NM_000251.3

p.R534fs

c.1600_1601fs

Surrounding Variants

12 papers

NM_000251.3

p.R534C

c.1600C>T

3 papers

NM_001258281.1

p.R468delFs

c.1403delG

NM_000251.3

p.R534delFs

c.1601delG

6 papers

NM_000251.3

p.R534fs

c.1600_1601fs

12 papers

NM_000251.3

p.R534H

c.1601G>A

3 papers

NM_000251.3

p.R534P

c.1601G>C

1 paper

NM_000251.3

p.R534insFs

c.1602dupT

8 papers

NM_000251.3

p.R534L

c.1601G>T

2 papers

NM_000251.3

p.R534delFs

c.1602delT

1 paper

NM_000251.3

p.N535_N536del2

c.1603_1607del6

4 papers

NM_000251.3

p.R534delFs

c.1600delC

2 papers

NM_000251.3

p.R534delFs

c.1600_1601delCG

6 papers

NM_000251.3

p.R534R

c.1602T>A