Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_001276451.2

p.R141Q

c.422G>A

NM_001276451.2

p.P7S

c.19C>T

NM_001276451.2

p.C6del1

c.16_18delGCA

NM_001276451.2

p.F16_N18del3

c.46_53del9

NM_001276451.2

p.G27E

c.80G>A

NM_001276451.2

p.R34C

c.100C>T

NM_001276451.2

p.R37W

c.109C>T

NM_001276451.2

p.Q44_L45Splc

c.132+4C>A

NM_001276451.2

p.A47S

c.139G>T

NM_001276451.2

p.Q78delFs

c.234delC

NM_001276451.2

p.V79fs

c.235_236fs

NM_001276451.2

p.F81L

c.241T>C