Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_017854.2

p.R17G

c.49C>G

NM_017854.2

p.S21L

c.62C>T

NM_017854.2

p.G120S

c.358G>A

NM_017854.2

p.R19W

c.55C>T

NM_017854.2

p.G35W

c.103G>T

NM_017854.2

p.F89Y

c.266T>A

NM_017854.2

p.Y117F

c.350A>T

NM_017854.2

p.G126R

c.376G>C

NM_017854.2

p.G126R

c.376G>A

NM_017854.2

p.V164M

c.490G>A

NM_017854.2

p.R184fs

c.550_551fs