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.E881_K882insFs

c.2642_2645dup4

Surrounding Variants

4 papers

NM_000251.3

p.I883insFs

c.2647dupA

1 paper

NM_000251.3

p.E881fs

c.2641_2642fs

2 papers

NM_000251.3

p.E881*

c.2641G>T

7 papers

NM_000251.3

p.I883delFs

c.2647delA

2 papers

NM_000251.3

p.E881_K882del2

c.2641_2645del6

1 paper

NM_000251.3

p.G880D

c.2639G>A

1 paper

NM_000251.3

p.K882_I883insSVA

c.2644_2648ins9

1 paper

NM_000251.3

p.K882_Q885del0

c.2645_2653del9

1 paper

NM_000251.3

p.G880S

c.2638G>A

1 paper

NM_000251.3

p.G880_E881insFs

c.2640_2641dupTG

1 paper

NM_000251.3

p.G880_E886delFs

c.2640_2656del17

5 papers

NM_000251.3

p.I883fs

c.2647_2648fs