Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001308313.2

p.K73R

c.218A>G

Surrounding Variants

NM_001308313.2

p.R55W

c.163C>T

NM_001308313.2

p.E54Q

c.160G>C

NM_001308313.2

p.V52M

c.154G>A

NM_001308313.2

p.S45P

c.133T>C

NM_001308313.2

p.S45fs

c.133_134fs

NM_001308313.2

p.L44_E48delFs

c.132_144del13

NM_001308313.2

p.D39Splc

c.117-89T>C

NM_001308313.2

p.D39Splc

c.117-115T>A

NM_001308313.2

p.V191Splc

c.573-8C>T

NM_001308313.2

p.L197V

c.589T>G