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.E378D

c.1134A>C

Surrounding Variants

1 paper

NM_000251.3

p.E378D

c.1134A>T

2 papers

NM_000251.3

p.D379_L380delFs

c.1135_1139del5

1 paper

NM_000251.3

p.E378_D379delFs

c.1134_1135delAG

2 papers

NM_000251.3

p.D379insFs

c.1135_1136insA

2 papers

NM_000251.3

p.D379Y

c.1135G>T

1 paper

NM_000251.3

p.D379_L380delFs

c.1136_1139del4

2 papers

NM_000251.3

p.D379G

c.1136A>G

5 papers

NM_000251.3

p.L380delFs

c.1139delT

1 paper

NM_000251.3

p.L380_L381delFs

c.1139_1143del5

2 papers

NM_000251.3

p.L380_L381del2

c.1138_1142del6

1 paper

NM_000251.3

p.E378K

c.1132G>A

1 paper

NM_000251.3

p.E378*

c.1132G>T