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.D282H

c.844G>C

Surrounding Variants

1 paper

NM_000251.3

p.D282insFs

c.845dupA

2 papers

NM_000251.3

p.D282fs

c.844_845fs

1 paper

NM_000251.3

p.D282Y

c.844G>T

1 paper

NM_000251.3

p.D282fs

c.844_845fs

3 papers

NM_000251.3

p.D282_D283delFs

c.845_848del4

1 paper

NM_000251.3

p.D282_F286delFs

c.845_858del14

1 paper

NM_000251.3

p.D282_S284insFs

c.844_850dup7

1 paper

NM_000251.3

p.D282A

c.845A>C

2 papers

NM_000251.3

p.D282G

c.845A>G

1 paper

NM_000251.3

p.S281S

c.843A>G

7 papers

NM_000251.3

p.S281S

c.843A>T

1 paper

NM_000251.3

p.D282delFs

c.846delT