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.E886_K890Fs

c.2656_2668delinsTCTAAAFs

Surrounding Variants

4 papers

NM_000251.3

p.E886*

c.2656G>T

1 paper

NM_000251.3

p.E886insFs

c.2657_2658ins20

1 paper

NM_000251.3

p.E886A

c.2657A>C

8 papers

NM_000251.3

p.E886G

c.2657A>G

1 paper

NM_000251.3

p.Q885H

c.2655G>C

1 paper

NM_000251.3

p.Q885H

c.2655G>T

1 paper

NM_000251.3

p.E886D

c.2658G>C

1 paper

NM_000251.3

p.E886D

c.2658G>T

1 paper

NM_000251.3

p.F887_S889del3

c.2659_2666del9

9 papers

NM_000251.3

p.Q885*

c.2653C>T

1 paper

NM_000251.3

p.F887fs

c.2659_2660fs

4 papers

NM_000251.3

p.L888delFs

c.2662delC