Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

NM_145202.5

p.H101R

c.302A>G

NM_145202.5

p.E38V

c.113A>T

NM_145202.5

p.R48R

c.144T>A

NM_145202.5

p.V49E

c.146T>A

NM_145202.5

p.V65fs

c.193_194fs

NM_145202.5

p.V65delFs

c.195delC

NM_145202.5

p.P68P

c.204G>A

NM_145202.5

p.E75del1

c.223_224delGAG

NM_145202.5

p.G81S

c.241G>A

NM_145202.5

p.G81D

c.242G>A

NM_145202.5

p.I85_L86delins

c.255_256delinsTT

NM_145202.5

p.L86F

c.256C>T