Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

NM_014149.4

p.P257L

c.770C>T

NM_014149.4

p.P171Splc

c.511+1A>G

NM_014149.4

p.Q334*

c.1000C>T

NM_014149.4

p.L465_L466Splc

c.1395+1G>A

NM_014149.4

p.Y80*

c.240C>G

NM_014149.4

p.G405R

c.1213G>C

NM_014149.4

p.G405R

c.1213G>A

NM_014149.4

p.M1K

c.2T>A

NM_014149.4

p.E6A

c.17A>C

NM_014149.4

p.R7R

c.21C>T

NM_014149.4

p.E10*

c.28G>T

NM_014149.4

p.Y15H

c.43T>C