Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 54 variants

NM_001039592.2

p.D37A

c.110A>C

NM_001039592.2

p.T61_A62delFs

c.182_186del5

NM_001039592.2

p.G182_G186del0

c.546_557del12

NM_001039592.2

p.G182_G186del5

c.544_557del15

NM_001039592.2

p.R310*

c.928C>T

NM_001039592.2

p.E5E

c.15G>A

NM_001039592.2

p.S12P

c.34T>C

NM_001039592.2

p.S14fs

c.40_41fs

NM_001039592.2

p.S14_R15delFs

c.41_44del4

NM_001039592.2

p.P34L

c.101C>T

NM_001039592.2

p.S39R

c.115A>C

NM_001039592.2

p.S39R

c.117T>G