Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_004148.4

p.A110D

c.329C>A

NM_004148.4

p.E7fs

c.19_20fs

NM_004148.4

p.Y8*

c.24C>G

NM_004148.4

p.Y8*

c.24C>A

NM_004148.4

p.P35P

c.105C>T

NM_004148.4

p.A42T

c.124G>A

NM_004148.4

p.K45N

c.135G>T

NM_004148.4

p.K45N

c.135G>C

NM_004148.4

p.A47S

c.139G>T

NM_004148.4

p.E49D

c.147G>T

NM_004148.4

p.E49D

c.147G>C

NM_004148.4

p.N60S

c.179A>G