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

9 papers

NM_000251.3

p.G71R

c.211G>A

Surrounding Variants

12 papers

NM_000251.3

p.G71R

c.211G>C

7 papers

NM_000251.3

p.G71*

c.211G>T

1 paper

NM_000251.3

p.A70A

c.210A>C

1 paper

NM_000251.3

p.G71delFs

c.211delG

2 papers

NM_000251.3

p.G71Splc

c.211+1G>A

8 papers

NM_000251.3

p.G71A

c.212G>C

4 papers

NM_000251.3

p.G71Splc

c.211+1G>T

1 paper

NM_000251.3

p.A70E

c.209C>A

1 paper

NM_000251.3

p.G71Splc

c.211+2T>C

1 paper

NM_000251.3

p.A70S

c.208G>T

1 paper

NM_000251.3

p.P69P

c.207G>A

2 papers

NM_000251.3

p.P69Q

c.206C>A