Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_020706.2

p.R112C

c.334C>T

Surrounding Variants

NM_020706.2

p.Q118P

c.353A>C

NM_020706.2

p.I125insFs

c.374_375dupTT

NM_020706.2

p.V144I

c.430G>A

NM_020706.2

p.V144V

c.432A>T

NM_020706.2

p.N151D

c.451A>G

NM_020706.2

p.N151_E152delFs

c.453_456del4

NM_020706.2

p.N172K

c.516C>G

NM_020706.2

p.N172K

c.516C>A

NM_020706.2

p.V174insFs

c.521dupT

NM_020706.2

p.A176fs

c.526_527fs

NM_020706.2

p.S182_S183insFs

c.546_547ins7

NM_020706.2

p.S183fs

c.547_548fs