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

2 papers

NM_000251.3

p.L51V

c.151C>G

Surrounding Variants

1 paper

NM_000251.3

p.L51M

c.151C>A

1 paper

NM_000251.3

p.L51delins

c.151_152delinsGC

1 paper

NM_000251.3

p.L52_V57del6

c.154_170del18

1 paper

NM_000251.3

p.L51Fs

c.151delinsAACFs

1 paper

NM_000251.3

p.L51_E56insFs

c.151_167dup17

2 papers

NM_000251.3

p.A50_L51insFs

c.150_151insT

1 paper

NM_000251.3

p.A50_I64Fs

c.150_191delinsCCFs

2 papers

NM_000251.3

p.L51Q

c.152T>A

2 papers

NM_000251.3

p.L51P

c.152T>C

1 paper

NM_000251.3

p.L51R

c.152T>G

2 papers

NM_000251.3

p.L51insFs

c.153dupG

1 paper

NM_000251.3

p.L52_A53delFs

c.155_158del4