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.L595delFs

c.1783_1784delCT

Surrounding Variants

1 paper

NM_000251.3

p.L595insFs

c.1783dupC

3 papers

NM_000251.3

p.T594_L595insFs

c.1782_1783insCT

1 paper

NM_000251.3

p.T594T

c.1782A>G

2 papers

NM_000251.3

p.T594insFs

c.1782dupA

5 papers

NM_000251.3

p.T594insFs

c.1781_1782insCT

2 papers

NM_000251.3

p.L595fs

c.1783_1784fs

2 papers

NM_000251.3

p.L595insFs

c.1784dupT

2 papers

NM_000251.3

p.T594I

c.1781C>T

6 papers

NM_000251.3

p.L595delFs

c.1784delT

1 paper

NM_000251.3

p.L595fs

c.1783_1784fs

1 paper

NM_000251.3

p.T594_L595ins13

c.1780_1784ins39

3 papers

NM_000251.3

p.L595P

c.1784T>C