Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

NM_033504.4

p.A77T

c.229G>A

NM_033504.4

p.G192_H197delFs

c.576_589del14

NM_033504.4

p.G6Splc

c.16+7G>T

NM_033504.4

p.G6Splc

c.17-5C>A

NM_033504.4

p.G11G

c.33C>T

NM_033504.4

p.V46M

c.136G>A

NM_033504.4

p.A52A

c.156G>A

NM_033504.4

p.A54G

c.161C>G

NM_033504.4

p.N61T

c.182A>C

NM_033504.4

p.L63H

c.188T>A

NM_033504.4

p.V71_T73del0

c.212_217del6

NM_033504.4

p.L103F

c.307C>T