Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

NM_001346311.2

p.L5V

c.13C>G

NM_001346311.2

p.I131V

c.391A>G

NM_001346311.2

p.R153Splc

c.458+1G>C

NM_001346311.2

p.R232Splc

c.695+1G>C

NM_001346311.2

p.Q249P

c.746A>C

NM_001346311.2

p.R392W

c.1174C>T

NM_001346311.2

p.N6I

c.17A>T

NM_001346311.2

p.D9G

c.26A>G

NM_001346311.2

p.D14H

c.40G>C

NM_001346311.2

p.K23_T24insFs

c.69_70ins7

NM_001346311.2

p.K23_T24insFs

c.69_70ins10

NM_001346311.2

p.T24fs

c.70_71fs