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

8 papers

NM_000251.3

p.G669Splc

c.2005+2T>C

Surrounding Variants

18 papers

NM_000251.3

p.G669Splc

c.2005+1G>A

5 papers

NM_000251.3

p.G669Splc

c.2005+1G>C

20 papers

NM_000251.3

p.G669V

c.2006G>T

4 papers

NM_000251.3

p.G669S

c.2005G>A

6 papers

NM_000251.3

p.G669R

c.2005G>C

1 paper

NM_000251.3

p.G669_P670ins10

c.2005_2009ins30

8 papers

NM_000251.3

p.G669C

c.2005G>T

1 paper

NM_000251.3

p.T668T

c.2004T>A

2 papers

NM_000251.3

p.T668Fs

c.2004delinsCAFs

1 paper

NM_000251.3

p.G669ins1

c.2005_2006insTAG

4 papers

NM_000251.3

p.G669delFs

c.2005delG

2 papers

NM_000251.3

p.G669Splc

c.2005+6A>C