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

16 papers

NM_000251.3

p.G204*

c.610G>T

Surrounding Variants

2 papers

NM_000251.3

p.G204R

c.610G>A

2 papers

NM_000251.3

p.G204R

c.610G>C

3 papers

NM_000251.3

p.E205_T206insFs

c.613_616dup4

1 paper

NM_000251.3

p.G204delFs

c.610delG

1 paper

NM_000251.3

p.G204A

c.611G>C

1 paper

NM_000251.3

p.G203delFs

c.609delA

6 papers

NM_000251.3

p.G203R

c.607G>A

6 papers

NM_000251.3

p.G203R

c.607G>C

4 papers

NM_000251.3

p.E205Q

c.613G>C

1 paper

NM_000251.3

p.E205fs

c.613_614fs

10 papers

NM_000251.3

p.E205*

c.613G>T

4 papers

NM_000251.3

p.G203*

c.607G>T