Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

NM_005519.2

p.Y273N

c.817T>A

NM_005519.2

p.G27G

c.81C>T

NM_005519.2

p.F20V

c.58T>G

NM_005519.2

p.S24F

c.71C>T

NM_005519.2

p.P34R

c.101C>G

NM_005519.2

p.V38F

c.112G>T

NM_005519.2

p.V49M

c.145G>A

NM_005519.2

p.S50Y

c.149C>A

NM_005519.2

p.S51delFs

c.153delG

NM_005519.2

p.E52fs

c.154_155fs

NM_005519.2

p.G59R

c.175G>C

NM_005519.2

p.P63L

c.188C>T