Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 461 variants

NM_000515.5

p.S97_N98Splc

c.291+1G>A

NM_000515.5

p.R209H

c.626G>A

NM_000515.5

p.T3R

c.8C>G

NM_000515.5

p.F57_E58Splc

c.172-2A>T

NM_000515.5

p.S97_N98Splc

c.291+6T>C

NM_000515.5

p.S97_N98Splc

c.291+1G>C

NM_000515.5

p.S97_N98Splc

c.291+2T>C

NM_000515.5

p.S97_N98Splc

c.291+28G>A

NM_000515.5

p.R103H

c.308G>A

NM_000515.5

p.L127V

c.379C>G

NM_000515.5

p.T3A

c.7A>G

NM_000515.5

p.F57_E58Splc

c.172-1G>C