Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

NM_199352.6

p.R300T

c.899G>C

NM_199352.6

p.M486V

c.1456A>G

NM_199352.6

p.K134_W135Splc

c.403-2A>G

NM_199352.6

p.V117fs

c.349_350fs

NM_199352.6

p.S250G

c.748A>G

NM_199352.6

p.G534R

c.1600G>C

NM_199352.6

p.G534R

c.1600G>A

NM_199352.6

p.G11V

c.32G>T

NM_199352.6

p.F16fs

c.46_47fs

NM_199352.6

p.F27_N28del1

c.80_82delTGA

NM_199352.6

p.N28N

c.84C>T

NM_199352.6

p.D46H

c.136G>C