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.I544_Q545delFs

c.1632_1633delCC

Surrounding Variants

1 paper

NM_000251.3

p.I544N

c.1631T>A

3 papers

NM_000251.3

p.I544T

c.1631T>C

1 paper

NM_000251.3

p.Q545insFs

c.1633dupC

1 paper

NM_000251.3

p.I544_Q545delFs

c.1632_1635del4

1 paper

NM_000251.3

p.Q545_T552del8

c.1633_1655del24

1 paper

NM_000251.3

p.I544_Q545insT

c.1630_1634ins3

1 paper

NM_000251.3

p.I544fs

c.1630_1631fs

1 paper

NM_000251.3

p.I544I

c.1632C>T

9 papers

NM_000251.3

p.Q545*

c.1633C>T

1 paper

NM_000251.3

p.Q545delFs

c.1634_1635delAG

1 paper

NM_000251.3

p.K546_N547del1

c.1638_1640delGAA

1 paper

NM_000251.3

p.Q545_K546delFs

c.1634_1637del4