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_000251.3

p.G669Splc

c.2006-2A>T

Surrounding Variants

16 papers

NM_000251.3

p.G669Splc

c.2006-2A>G

6 papers

NM_000251.3

p.G669Splc

c.2006-1G>C

2 papers

NM_000251.3

p.G669Splc

c.2006-1G>T

1 paper

NM_000251.3

p.G669_P670delFs

c.2006_2010del5

4 papers

NM_000251.3

p.G669Splc

c.2006-3T>G

3 papers

NM_000251.3

p.G669D

c.2006G>A

2 papers

NM_000251.3

p.G669Splc

c.2006-4G>A

2 papers

NM_000251.3

p.P670insFs

c.2010dupC

16 papers

NM_000251.3

p.G669V

c.2006G>T

3 papers

NM_000251.3

p.P670delFs

c.2010delC

4 papers

NM_000251.3

p.G669fs

c.2005_2006fs

1 paper

NM_000251.3

p.G669G

c.2007C>A