Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 166 variants

NM_001281747.2

p.S324C

c.971C>G

NM_001281747.2

p.R844*

c.2530C>T

NM_001281747.2

p.V33G

c.98T>G

NM_001281747.2

p.S288C

c.863C>G

NM_001281747.2

p.P501L

c.1502C>T

NM_001281747.2

p.T544T

c.1632A>T

NM_001281747.2

p.K609*

c.1825A>T

NM_001281747.2

p.S859C

c.2576C>G

NM_001281747.2

p.L863_T864Splc

c.2589+1G>A

NM_001281747.2

p.M979V

c.2935A>G

NM_138569.3

p.E18Q

c.52G>C

NM_001281747.2

p.M1_E4delFs

c.3_12del10