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.F384L

c.1152C>G

Surrounding Variants

1 paper

NM_000251.3

p.F384L

c.1152C>A

1 paper

NM_000251.3

p.F384_P385Fs

c.1152_1153delinsTFs

2 papers

NM_000251.3

p.P385fs

c.1153_1154fs

2 papers

NM_000251.3

p.P385A

c.1153C>G

2 papers

NM_000251.3

p.P385S

c.1153C>T

2 papers

NM_000251.3

p.P385fs

c.1153_1154fs

3 papers

NM_000251.3

p.F384Y

c.1151T>A

1 paper

NM_000251.3

p.F384C

c.1151T>G

2 papers

NM_000251.3

p.P385delFs

c.1154delC

3 papers

NM_000251.3

p.P385L

c.1154C>T

1 paper

NM_000251.3

p.F384L

c.1150T>C

2 papers

NM_000251.3

p.F384insFs

c.1151dupT