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

1 paper

NM_000251.3

p.S129delFs

c.387delT

Surrounding Variants

3 papers

NM_000251.3

p.S129C

c.386C>G

1 paper

NM_000251.3

p.S129F

c.386C>T

1 paper

NM_000251.3

p.S129insFs

c.386dupC

3 papers

NM_000251.3

p.S129fs

c.385_386fs

1 paper

NM_000251.3

p.S129Fs

c.385_386delinsGTTFs

1 paper

NM_000251.3

p.Q130delFs

c.388delC

32 papers

NM_000251.3

p.Q130delFs

c.388_389delCA

1 paper

NM_000251.3

p.S129fs

c.385_386fs

10 papers

NM_000251.3

p.Q130fs

c.388_389fs

2 papers

NM_000251.3

p.L128L

c.384C>G

2 papers

NM_000251.3

p.Q130E

c.388C>G

7 papers

NM_000251.3

p.Q130*

c.388C>T