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

4 papers

NM_000251.3

p.L380*

c.1139T>G

Surrounding Variants

4 papers

NM_000251.3

p.L380*

c.1139T>A

2 papers

NM_000251.3

p.L380S

c.1139T>C

2 papers

NM_000251.3

p.L380delFs

c.1140delA

2 papers

NM_000251.3

p.L380_R389del0

c.1140_1166del27

2 papers

NM_000251.3

p.L380V

c.1138T>G

2 papers

NM_000251.3

p.L380fs

c.1138_1139fs

4 papers

NM_000251.3

p.L380fs

c.1138_1139fs

1 paper

NM_000251.3

p.L380_R383delFs

c.1139_1149del11

1 paper

NM_000251.3

p.L381I

c.1141C>A

1 paper

NM_000251.3

p.L381V

c.1141C>G

1 paper

NM_000251.3

p.L381F

c.1141C>T

2 papers

NM_000251.3

p.L381delFs

c.1143delT