Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_016507.4

p.R983*

c.2947C>T

Surrounding Variants

NM_016507.4

p.R983_E984del1

c.2948_2950delGAG

NM_016507.4

p.R983Q

c.2948G>A

NM_016507.4

p.L982fs

c.2944_2945fs

NM_016507.4

p.E984*

c.2950G>T

NM_016507.4

p.R981_L982insA

c.2941_2945ins3

NM_016507.4

p.R981C

c.2941C>T

NM_016507.4

p.E985K

c.2953G>A

NM_016507.4

p.E985Q

c.2953G>C

NM_016507.4

p.R981insFs

c.2941_2942dupCG

NM_016507.4

p.F986L

c.2956T>C

NM_016507.4

p.F986V

c.2956T>G

NM_016507.4

p.F986fs

c.2956_2957fs