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.R214delFs

c.640delA

Surrounding Variants

1 paper

NM_000251.3

p.L213L

c.639G>A

1 paper

NM_000251.3

p.R214_Q215insFs

c.641_644dup4

5 papers

NM_000251.3

p.R214_Q215delFs

c.642_645del4

1 paper

NM_000251.3

p.R214_Q215ins8

c.640_644ins24

1 paper

NM_000251.3

p.R214G

c.640A>G

1 paper

NM_000251.3

p.R214*

c.640A>T

1 paper

NM_000251.3

p.R214fs

c.640_641fs

2 papers

NM_000251.3

p.L213Q

c.638T>A

2 papers

NM_000251.3

p.L213P

c.638T>C

5 papers

NM_000251.3

p.L213fs

c.637_638fs

1 paper

NM_000251.3

p.L213_R214insT

c.637_641ins3

2 papers

NM_000251.3

p.L213insFs

c.638dupT