Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 162 variants

NM_020706.2

p.R426*

c.1276C>T

NM_020706.2

p.W630*

c.1889G>A

NM_020706.2

p.E10_L11Splc

c.31-1G>A

NM_020706.2

p.S13L

c.38C>T

NM_020706.2

p.K25E

c.73A>G

NM_020706.2

p.K53fs

c.157_158fs

NM_020706.2

p.C54R

c.160T>C

NM_020706.2

p.Y100fs

c.298_299fs

NM_020706.2

p.Y100_L101delFs

c.299_302del4

NM_020706.2

p.K107_S108Splc

c.321+1G>T

NM_020706.2

p.I125insFs

c.374_375dupTT

NM_020706.2

p.N151_E152delFs

c.453_456del4