Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001136218.2

p.E169*

c.505G>T

Surrounding Variants

NM_001136218.2

p.E169del1

c.505_506delGAG

NM_001136218.2

p.D168N

c.502G>A

NM_001136218.2

p.L167R

c.500T>G

NM_001136218.2

p.P159S

c.475C>T

NM_001136218.2

p.L158V

c.472C>G

NM_001136218.2

p.A181insFs

c.541_542ins5

NM_001136218.2

p.A181fs

c.541_542fs

NM_001136218.2

p.P186_D188del3

c.556_563del9

NM_001136218.2

p.D188G

c.563A>G

NM_001136218.2

p.R146W

c.436A>T

NM_001136218.2

p.P200P

c.600G>A

NM_001136218.2

p.R204Q

c.611G>A