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.L191I

c.571C>A

Surrounding Variants

1 paper

NM_000251.3

p.L191fs

c.571_572fs

1 paper

NM_000251.3

p.L191F

c.571C>T

1 paper

NM_000251.3

p.L191fs

c.571_572fs

1 paper

NM_000251.3

p.L191R

c.572T>G

1 paper

NM_000251.3

p.L191L

c.573C>G

3 papers

NM_000251.3

p.L191L

c.573C>T

1 paper

NM_000251.3

p.I192delFs

c.574_575delAT

2 papers

NM_000251.3

p.L190P

c.569T>C

1 paper

NM_000251.3

p.I192F

c.574A>T

1 paper

NM_000251.3

p.L190_L191insA

c.568_572ins3

2 papers

NM_000251.3

p.L190V

c.568C>G

2 papers

NM_000251.3

p.L190F

c.568C>T