Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001304964.2

p.A174Splc

c.521+1G>A

NM_001304964.2

p.F7_S8delFs

c.19_23del5

NM_001304964.2

p.F7fs

c.19_20fs

NM_001304964.2

p.A19_S23del5

c.55_68del15

NM_001304964.2

p.N36I

c.107A>T

NM_001304964.2

p.G46S

c.136G>A

NM_001304964.2

p.A52E

c.155C>A

NM_001304964.2

p.Y90Y

c.270T>C

NM_001304964.2

p.G97R

c.289G>A

NM_001304964.2

p.G97R

c.289G>C

NM_001304964.2

p.N99N

c.297T>C

NM_001304964.2

p.P110T

c.328C>A