Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

NM_013335.4

p.T334P

c.1000A>C

NM_013335.4

p.G182D

c.545G>A

NM_013335.4

p.N401T

c.1202A>C

NM_013335.4

p.E70delFs

c.210delA

NM_013335.4

p.A71fs

c.211_212fs

NM_013335.4

p.L89fs

c.265_266fs

NM_013335.4

p.R99*

c.295C>T

NM_013335.4

p.W214*

c.642G>A

NM_013335.4

p.G308R

c.922G>A

NM_013335.4

p.G308R

c.922G>C

NM_013335.4

p.R318W

c.952C>T

NM_013335.4

p.Q331_E332Splc

c.993+1G>A