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.L190F

c.568C>T

Surrounding Variants

1 paper

NM_000251.3

p.L190_L191insA

c.568_572ins3

2 papers

NM_000251.3

p.L190V

c.568C>G

1 paper

NM_000251.3

p.L190fs

c.568_569fs

2 papers

NM_000251.3

p.L190P

c.569T>C

8 papers

NM_000251.3

p.L191del1

c.571_572delCTC

1 paper

NM_000251.3

p.L190_L191del2

c.568_572del6

1 paper

NM_000251.3

p.L190_Q193del4

c.568_578del12

2 papers

NM_000251.3

p.A189G

c.566C>G

1 paper

NM_000251.3

p.A189V

c.566C>T

1 paper

NM_000251.3

p.A189delFs

c.567delT

1 paper

NM_000251.3

p.L191I

c.571C>A

1 paper

NM_000251.3

p.L191fs

c.571_572fs