Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001193315.2

p.E211Q

c.631G>C

Surrounding Variants

NM_001193315.2

p.L213P

c.638T>C

NM_001193315.2

p.R220*

c.658C>T

NM_001193315.2

p.Q221K

c.661C>A

NM_001193315.2

p.E211Splc

c.632-70A>G

NM_001193315.2

p.D236V

c.707A>T

NM_001193315.2

p.R206_S209ins1

c.618_626dup9

NM_001193315.2

p.T250fs

c.748_749fs

NM_001193315.2

p.T250fs

c.748_749fs

NM_001193315.2

p.T250_E251delFs

c.748_752del5

NM_001193315.2

p.A254A

c.762G>A

NM_001193315.2

p.E187delFs

c.559delC

NM_001193315.2

p.E187fs

c.559_560fs