Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001193315.2

p.P267L

c.800C>T

Surrounding Variants

NM_001193315.2

p.I264delFs

c.790_791delAT

NM_001193315.2

p.R270*

c.808C>T

NM_001193315.2

p.G279Splc

c.837-1G>T

NM_001193315.2

p.Q291*

c.871C>T

NM_001193315.2

p.I318N

c.953T>A

NM_001193315.2

p.L337insFs

c.1010dupT

NM_001193315.2

p.C341R

c.1021T>C

NM_001193315.2

p.Y345*

c.1035C>G

NM_001193315.2

p.Y345*

c.1035C>A

NM_001193315.2

p.A254A

c.762G>A

NM_001193315.2

p.T250_E251delFs

c.748_752del5

NM_001193315.2

p.T250fs

c.748_749fs