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.Q718_L719del2

c.2152_2156del6

Surrounding Variants

2 papers

NM_000251.3

p.Q718fs

c.2152_2153fs

1 paper

NM_000251.3

p.Q718E

c.2152C>G

46 papers

NM_000251.3

p.Q718*

c.2152C>T

3 papers

NM_000251.3

p.Q718delFs

c.2154delA

2 papers

NM_000251.3

p.Q718fs

c.2152_2153fs

2 papers

NM_000251.3

p.S717N

c.2150G>A

1 paper

NM_000251.3

p.Q718_L719insFs

c.2154_2155dupAT

2 papers

NM_000251.3

p.S717fs

c.2149_2150fs

2 papers

NM_000251.3

p.Q718P

c.2153A>C

1 paper

NM_000251.3

p.Q718_L719delFs

c.2154_2155delAT

1 paper

NM_000251.3

p.S717fs

c.2149_2150fs

2 papers

NM_000251.3

p.L719insFs

c.2156dupT