Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 149 variants

NM_001005337.3

p.Y71*

c.213T>A

NM_001005337.3

p.Y71*

c.213T>G

NM_001005337.3

p.Q304*

c.910C>T

NM_001005337.3

p.G68Splc

c.203-1G>A

NM_001005337.3

p.L560_M561Splc

c.1680+1G>A

NM_001005337.3

p.R411Splc

c.1233-2A>T

NM_001005337.3

p.G612Splc

c.1835-2A>G

NM_001005337.3

p.S674Splc

c.2021+1G>A

NM_001005337.3

p.Q282_V283Splc

c.847-2A>G

NM_001005337.3

p.L296delFs

c.888delC

NM_001005337.3

p.T351T

c.1053T>A

NM_001005337.3

p.G68Splc

c.202+1G>C