Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

NM_001039617.2

p.G307R

c.919G>C

NM_001039617.2

p.G307R

c.919G>A

NM_001039617.2

p.M1insFs

c.2dupT

NM_001039617.2

p.T5M

c.14C>T

NM_001039617.2

p.E13A

c.38A>C

NM_001039617.2

p.P14_H15ins15

c.40_44ins45

NM_001039617.2

p.H15fs

c.43_44fs

NM_001039617.2

p.P23R

c.68C>G

NM_001039617.2

p.P49Splc

c.146+1G>A

NM_001039617.2

p.G90Splc

c.269-5G>A

NM_001039617.2

p.C142S

c.424T>A

NM_001039617.2

p.C142S

c.425G>C