Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

NM_001080415.2

p.R243H

c.728G>A

NM_001080415.2

p.T310I

c.929C>T

NM_001080415.2

p.I431M

c.1293A>G

NM_001080415.2

p.L623fs

c.1867_1868fs

NM_001080415.2

p.T719I

c.2156C>T

NM_001080415.2

p.G7_G8ins2

c.21_22ins6

NM_001080415.2

p.S9Y

c.26C>A

NM_001080415.2

p.P47fs

c.139_140fs

NM_001080415.2

p.S67F

c.200C>T

NM_001080415.2

p.K80Q

c.238A>C

NM_001080415.2

p.T95insFs

c.284_285insTT

NM_001080415.2

p.A143A

c.429A>G