Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

NM_001145536.2

p.W152*

c.455G>A

NM_001145536.2

p.W152*

c.456G>A

NM_001145536.2

p.E181*

c.541G>T

NM_001145536.2

p.E22K

c.64G>A

NM_001145536.2

p.V23delFs

c.68delT

NM_001145536.2

p.L25I

c.73C>A

NM_001145536.2

p.A38V

c.113C>T

NM_001145536.2

p.P59_M61delFs

c.175_181del7

NM_001145536.2

p.P59fs

c.175_176fs

NM_001145536.2

p.A67S

c.199G>T

NM_001145536.2

p.P68del1

c.202_203delCCG

NM_001145536.2

p.E78*

c.232G>T