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.Q402H

c.1206A>C

Surrounding Variants

1 paper

NM_000251.3

p.Q402H

c.1206A>T

2 papers

NM_000251.3

p.Q402R

c.1205A>G

1 paper

NM_000251.3

p.D403N

c.1207G>A

1 paper

NM_000251.3

p.D403H

c.1207G>C

1 paper

NM_000251.3

p.D403fs

c.1207_1208fs

2 papers

NM_000251.3

p.D403delFs

c.1208delA

1 paper

NM_000251.3

p.D403fs

c.1207_1208fs

1 paper

NM_000251.3

p.C404insFs

c.1210dupT

2 papers

NM_000251.3

p.D403G

c.1208A>G

3 papers

NM_000251.3

p.D403delFs

c.1209delT

3 papers

NM_000251.3

p.Q402K

c.1204C>A

8 papers

NM_000251.3

p.Q402fs

c.1204_1205fs