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

2 papers

NM_000251.3

p.R382S

c.1144C>A

Surrounding Variants

1 paper

NM_000251.3

p.R382insFs

c.1145dupG

2 papers

NM_000251.3

p.R382fs

c.1144_1145fs

7 papers

NM_000251.3

p.R382C

c.1144C>T

1 paper

NM_000251.3

p.R382delFs

c.1145delG

4 papers

NM_000251.3

p.R382fs

c.1144_1145fs

18 papers

NM_000251.3

p.R382H

c.1145G>A

1 paper

NM_000251.3

p.R382P

c.1145G>C

1 paper

NM_000251.3

p.F384_P385insFs

c.1152_1153ins5

1 paper

NM_000251.3

p.R382L

c.1145G>T

1 paper

NM_000251.3

p.L381_R382insFs

c.1143_1144insA

4 papers

NM_000251.3

p.R382insFs

c.1144_1145insC

3 papers

NM_000251.3

p.R382delFs

c.1144delC