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.G338V

c.1013G>T

Surrounding Variants

20 papers

NM_000251.3

p.G338E

c.1013G>A

2 papers

NM_000251.3

p.G338A

c.1013G>C

22 papers

NM_000251.3

p.G338R

c.1012G>A

21 papers

NM_000251.3

p.G338R

c.1012G>C

1 paper

NM_000251.3

p.Q337_G338Fs

c.1011_1014delinsAATGTGCAFs

1 paper

NM_000251.3

p.Q339_R340del2

c.1015_1019del6

1 paper

NM_000251.3

p.Q339K

c.1015C>A

4 papers

NM_000251.3

p.Q339insFs

c.1016dupA

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