Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

NM_001286474.2

p.Y69C

c.206A>G

NM_001286474.2

p.S227P

c.679T>C

NM_001286474.2

p.Y36H

c.106T>C

NM_001286474.2

p.K398Q

c.1192A>C

NM_001286474.2

p.I148F

c.442A>T

NM_001286474.2

p.E5Splc

c.13+1G>A

NM_001286474.2

p.A21V

c.62C>T

NM_001286474.2

p.C30R

c.88T>C

NM_001286474.2

p.R58*

c.172C>T

NM_001286474.2

p.A60G

c.179C>G

NM_001286474.2

p.N84T

c.251A>C

NM_001286474.2

p.S101Splc

c.301+6T>C