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.M894fs

c.2680_2681fs

Surrounding Variants

3 papers

NM_000251.3

p.M894fs

c.2680_2681fs

1 paper

NM_000251.3

p.M894V

c.2680A>G

1 paper

NM_000251.3

p.M894delFs

c.2681_2682delTG

1 paper

NM_000251.3

p.M894delFs

c.2680_2681delAT

1 paper

NM_000251.3

p.M894K

c.2681T>A

1 paper

NM_000251.3

p.P895_F896del2

c.2683_2687del6

1 paper

NM_000251.3

p.P895T

c.2683C>A

6 papers

NM_000251.3

p.M894insFs

c.2680_2681insA

1 paper

NM_000251.3

p.Q893fs

c.2677_2678fs

1 paper

NM_000251.3

p.Q893*

c.2677C>T

4 papers

NM_000251.3

p.P895L

c.2684C>T

1 paper

NM_000251.3

p.K892R

c.2675A>G