Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001323368.2

p.D285H

c.853G>C

Surrounding Variants

NM_001323368.2

p.Y281insFs

c.842_843insA

NM_001323368.2

p.Q252_K253Splc

c.757-1G>C

NM_001323368.2

p.E321Q

c.961G>C

NM_001323368.2

p.N323H

c.967A>C

NM_001323368.2

p.K250Q

c.748A>C

NM_001323368.2

p.A237T

c.709G>A

NM_001323368.2

p.Y221S

c.662A>C

NM_001323368.2

p.L200M

c.598T>A

NM_001323368.2

p.E199insFs

c.595_596insCT

NM_001323368.2

p.E199fs

c.595_596fs

NM_001323368.2

p.D193N

c.577G>A

NM_001323368.2

p.T182K

c.545C>A