Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000250.2

p.Q71*

c.211C>T

Surrounding Variants

NM_000250.2

p.L72L

c.216G>A

NM_000250.2

p.E67_V73Fs

c.200_218delinsCTFs

NM_000250.2

p.V73insFs

c.218_219insC

NM_000250.2

p.V73V

c.219G>T

NM_000250.2

p.D74N

c.220G>A

NM_000250.2

p.E68K

c.202G>A

NM_000250.2

p.K75N

c.225G>T

NM_000250.2

p.K75N

c.225G>C

NM_000250.2

p.L72_K75delFs

c.215_225del11

NM_000250.2

p.A76V

c.227C>T

NM_000250.2

p.Y77F

c.230A>T

NM_000250.2

p.R80W

c.238C>T