Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001347721.2

p.Q69_R70Splc

c.208-28G>C

Surrounding Variants

NM_001396.5

p.Q69_V70Splc

c.208-1G>A

NM_001347721.2

p.Q69_R70Splc

c.208-28G>A

NM_001396.5

p.P72A

c.214C>G

NM_001396.5

p.Q69_V70Splc

c.208-13C>G

NM_001347721.2

p.Q69_R70Splc

c.208-1G>A

NM_001347721.2

p.Q69_R70Splc

c.208-1G>C

NM_001396.5

p.R79insFs

c.235dupA

NM_001396.5

p.R79fs

c.235_236fs

NM_001347721.2

p.F76insFs

c.227_228insT

NM_001347721.2

p.F76C

c.227T>G

NM_001347721.2

p.R77R

c.231T>A

NM_001347721.2

p.P79delFs

c.236delC

NM_001347721.2

p.D78D

c.234C>T