Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 685 variants

NM_003590.5

p.G402_L403Splc

c.1207-1G>A

NM_003590.5

p.V501I

c.1501G>A

NM_003590.5

p.V285A

c.854T>C

NM_003590.5

p.K459R

c.1376A>G

NM_003590.5

p.R546*

c.1636C>T

NM_003590.5

p.E407E

c.1221A>G

NM_003590.5

p.L412L

c.1236G>A

NM_003590.5

p.D413G

c.1238A>G

NM_003590.5

p.K459N

c.1377G>C

NM_003590.5

p.K459_T460Splc

c.1377+1G>C

NM_003590.5

p.Y58C

c.173A>G

NM_003590.5

p.E246*

c.736G>T