Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

NM_001303281.2

p.P147L

c.440C>T

NM_001303281.2

p.S523L

c.1568C>T

NM_001303281.2

p.Q369_L370del1

c.1106_1108delGTT

NM_001303281.2

p.G6E

c.17G>A

NM_001303281.2

p.F23V

c.67T>G

NM_001303281.2

p.R41H

c.122G>A

NM_001303281.2

p.F67L

c.199T>C

NM_001303281.2

p.F67L

c.201C>G

NM_001303281.2

p.F67L

c.201C>A

NM_001303281.2

p.L90P

c.269T>C

NM_001303281.2

p.L115P

c.344T>C

NM_001303281.2

p.P123_Q124delFs

c.369_370delGG