Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018439.4

p.Q55K

c.163C>A

Surrounding Variants

NM_018439.4

p.Q55_V56Splc

c.165+1G>A

NM_018439.4

p.L54M

c.160T>A

NM_018439.4

p.W50S

c.149G>C

NM_018439.4

p.K49N

c.147A>T

NM_018439.4

p.K49I

c.146A>T

NM_018439.4

p.D47E

c.141C>A

NM_018439.4

p.D47E

c.141C>G

NM_018439.4

p.D47N

c.139G>A

NM_018439.4

p.D46N

c.136G>A

NM_018439.4

p.D44N

c.130G>A

NM_018439.4

p.R40fs

c.118_119fs

NM_018439.4

p.C38*

c.114T>A