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.L11ins1

c.31_32insGAG

Surrounding Variants

1 paper

NM_000251.3

p.L11M

c.31T>A

1 paper

NM_000251.3

p.L11L

c.31T>C

1 paper

NM_000251.3

p.L11V

c.31T>G

2 papers

NM_000251.3

p.L11fs

c.31_32fs

1 paper

NM_000251.3

p.L11insFs

c.32_33ins4

1 paper

NM_000251.3

p.L11fs

c.31_32fs

1 paper

NM_000251.3

p.L11_E16delFs

c.32_48del17

1 paper

NM_000251.3

p.Q10Q

c.30G>A

3 papers

NM_000251.3

p.Q10H

c.30G>C

1 paper

NM_000251.3

p.Q10_L11insFs

c.30_31insA

1 paper

NM_000251.3

p.Q10_L11ins1

c.30_31insGGA

3 papers

NM_000251.3

p.Q10H

c.30G>T