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

4 papers

NM_000251.3

p.E188*

c.562G>T

Surrounding Variants

1 paper

NM_000251.3

p.E188K

c.562G>A

8 papers

NM_000251.3

p.E188Q

c.562G>C

1 paper

NM_000251.3

p.E188fs

c.562_563fs

2 papers

NM_000251.3

p.E188delFs

c.563delA

2 papers

NM_000251.3

p.E188fs

c.562_563fs

1 paper

NM_000251.3

p.E188insFs

c.564dupG

1 paper

NM_000251.3

p.E188G

c.563A>G

1 paper

NM_000251.3

p.E188D

c.564G>C

2 papers

NM_000251.3

p.A189insFs

c.565_566dupGC

1 paper

NM_000251.3

p.E188D

c.564G>T

29 papers

NM_000251.3

p.L187P

c.560T>C

20 papers

NM_000251.3

p.L187R

c.560T>G