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.L709V

c.2125T>G

Surrounding Variants

1 paper

NM_000251.3

p.L709insFs

c.2125_2126insA

1 paper

NM_000251.3

p.L709insFs

c.2125dupT

3 papers

NM_000251.3

p.A710delFs

c.2128delG

1 paper

NM_000251.3

p.A710_A714del5

c.2128_2141del15

1 paper

NM_000251.3

p.A710_D716del7

c.2128_2147del21

5 papers

NM_000251.3

p.I708N

c.2123T>A

3 papers

NM_000251.3

p.I708T

c.2123T>C

1 paper

NM_000251.3

p.I708S

c.2123T>G

1 paper

NM_000251.3

p.I708_L709ins0

c.2124_2126dupCTT

1 paper

NM_000251.3

p.I708delFs

c.2123delT

1 paper

NM_000251.3

p.I708fs

c.2122_2123fs

1 paper

NM_000251.3

p.I708_L709delFs

c.2123_2126del4