Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

NM_001257357.2

p.H791R

c.2372A>G

NM_001257357.2

p.R9*

c.25C>T

NM_001257357.2

p.R18Q

c.53G>A

NM_001257357.2

p.A57P

c.169G>C

NM_001257357.2

p.K72*

c.214A>T

NM_001257357.2

p.R93W

c.277C>T

NM_001257357.2

p.S127Y

c.380C>A

NM_001257357.2

p.D143V

c.428A>T

NM_001257357.2

p.D216V

c.647A>T

NM_001257357.2

p.R248Q

c.743G>A

NM_001257357.2

p.E266K

c.796G>A

NM_001257357.2

p.S339Splc

c.1017-72G>A