Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001394396.1

p.D16N

c.46G>A

Surrounding Variants

NM_001394396.1

p.R23fs

c.67_68fs

NM_001394396.1

p.M1K

c.2T>A

NM_001394396.1

p.D40D

c.120C>T

NM_001394396.1

p.A41fs

c.121_122fs

NM_001394396.1

p.Y70_Q74del0

c.208_222del15

NM_001394396.1

p.A68T

c.202G>A

NM_001394396.1

p.R76M

c.227G>T

NM_001394396.1

p.R76S

c.228G>C

NM_001394396.1

p.R76S

c.228G>T

NM_001394396.1

p.G86*

c.256G>T

NM_001394396.1

p.S99fs

c.295_296fs

NM_001394396.1

p.S99delFs

c.296delC