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.C176delFs

c.526delT

Surrounding Variants

1 paper

NM_000251.3

p.L175L

c.525G>A

2 papers

NM_000251.3

p.L175Q

c.524T>A

1 paper

NM_000251.3

p.C176S

c.526T>A

9 papers

NM_000251.3

p.L175P

c.524T>C

1 paper

NM_000251.3

p.L175insFs

c.524_525insGA

1 paper

NM_000251.3

p.C176fs

c.526_527fs

1 paper

NM_000251.3

p.L175delFs

c.525delG

1 paper

NM_000251.3

p.C176fs

c.526_527fs

1 paper

NM_000251.3

p.L175_F178delFs

c.525_534del10

1 paper

NM_000251.3

p.L175V

c.523C>G

1 paper

NM_000251.3

p.L175L

c.523C>T

1 paper

NM_000251.3

p.L175delFs

c.524delT