Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001243079.2

p.P243H

c.728C>A

Surrounding Variants

NM_001243079.2

p.P247fs

c.739_740fs

NM_001243079.2

p.L253V

c.757C>G

NM_001243079.2

p.R257C

c.769C>T

NM_001243079.2

p.Q275_V276Splc

c.825+2T>C

NM_001243079.2

p.P282P

c.846G>A

NM_001243079.2

p.A283T

c.847G>A

NM_001243079.2

p.R314Q

c.941G>A

NM_001243079.2

p.A319_P320del2

c.955_959del6

NM_001243079.2

p.P320del1

c.958_959delCCC

NM_001243079.2

p.G323R

c.967G>A

NM_001243079.2

p.G323R

c.967G>C

NM_001243079.2

p.T235P

c.703A>C