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

4 papers

NM_000251.3

p.Q339insFs

c.1016dupA

Surrounding Variants

1 paper

NM_000251.3

p.Q339K

c.1015C>A

1 paper

NM_000251.3

p.Q339_R340insC

c.1015_1019ins3

5 papers

NM_000251.3

p.Q339*

c.1015C>T

1 paper

NM_000251.3

p.Q339delFs

c.1017delA

3 papers

NM_000251.3

p.Q339_R340delFs

c.1017_1018delAA

2 papers

NM_000251.3

p.Q339R

c.1016A>G

1 paper

NM_000251.3

p.R340_R355del16

c.1018_1064del48

20 papers

NM_000251.3

p.G338E

c.1013G>A

2 papers

NM_000251.3

p.G338A

c.1013G>C

3 papers

NM_000251.3

p.G338V

c.1013G>T

2 papers

NM_000251.3

p.R340fs

c.1018_1019fs

3 papers

NM_000251.3

p.R340G

c.1018A>G