Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_021002.2

p.S18*

c.53C>G

NM_021002.2

p.S19delFs

c.55delT

NM_021002.2

p.M38V

c.112A>G

NM_021002.2

p.A42T

c.124G>A

NM_021002.2

p.I47T

c.140T>C

NM_021002.2

p.L49P

c.146T>C

NM_021002.2

p.R60G

c.178A>G

NM_021002.2

p.Q63*

c.187C>T

NM_021002.2

p.E75E

c.225A>G

NM_021002.2

p.S78F

c.233C>T

NM_021002.2

p.N89N

c.267C>T

NM_021002.2

p.S92R

c.274A>C