Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

NM_001135091.2

p.D157N

c.469G>A

NM_001135091.2

p.T229I

c.686C>T

NM_001135091.2

p.K20insFs

c.60dupA

NM_001135091.2

p.T112P

c.334A>C

NM_001135091.2

p.E233*

c.697G>T

NM_001135091.2

p.F17L

c.49T>C

NM_001135091.2

p.F17L

c.51T>G

NM_001135091.2

p.F17L

c.51T>A

NM_001135091.2

p.K20delFs

c.60delT

NM_001135091.2

p.K20delFs

c.59_60delTT

NM_001135091.2

p.I22V

c.64A>G

NM_001135091.2

p.A32V

c.95C>T