Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

NM_001080451.2

p.A215Splc

c.643+1G>A

NM_001080451.2

p.P36insFs

c.108dupC

NM_001080451.2

p.Y224*

c.672C>G

NM_001080451.2

p.Y224*

c.672C>A

NM_001080451.2

p.E230A

c.689A>C

NM_001080451.2

p.G368R

c.1102G>C

NM_001080451.2

p.G368R

c.1102G>A

NM_001080451.2

p.R396R

c.1188G>A

NM_001080451.2

p.W5L

c.14G>T

NM_001080451.2

p.Q20*

c.58C>T

NM_001080451.2

p.A67A

c.201A>T

NM_001080451.2

p.L89fs

c.265_266fs