Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001193308.2

p.E41A

c.122A>C

Surrounding Variants

NM_001193308.2

p.T38insFs

c.114dupA

NM_001193308.2

p.Q57P

c.170A>C

NM_001193308.2

p.S64Splc

c.192-233A>G

NM_001193308.2

p.D72Y

c.214G>T

NM_001193308.2

p.W83S

c.248G>C

NM_001193308.2

p.R88H

c.263G>A

NM_001193308.2

p.Q90L

c.269A>T

NM_001193308.2

p.S99F

c.296C>T

NM_001193308.2

p.R103Q

c.308G>A

NM_001193308.2

p.A117D

c.350C>A

NM_001193308.2

p.K129delFs

c.387delA

NM_001193308.2

p.E130fs

c.388_389fs