Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 197 variants

NM_004758.4

p.Q757R

c.2270A>G

NM_004758.4

p.Q817delins

c.2449_2450delinsTG

NM_004758.4

p.G1808S

c.5422G>A

NM_004758.4

p.E105*

c.313G>T

NM_004758.4

p.L126P

c.377T>C

NM_004758.4

p.A180delFs

c.538delC

NM_004758.4

p.S608F

c.1823C>T

NM_004758.4

p.P623P

c.1869T>G

NM_004758.4

p.Q817*

c.2449C>T

NM_004758.4

p.R1058insFs

c.3172dupC

NM_004758.4

p.D1223D

c.3669C>T

NM_004758.4

p.S1417insFs

c.4249dupA