Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_001350921.2

p.G312E

c.935G>A

NM_001350921.2

p.M1K

c.2T>A

NM_001350921.2

p.Y15*

c.45T>G

NM_001350921.2

p.Y15*

c.45T>A

NM_001350921.2

p.R26Q

c.77G>A

NM_001350921.2

p.H40D

c.118C>G

NM_001350921.2

p.K48R

c.143A>G

NM_001350921.2

p.L69Fs

c.207delinsCTFs

NM_001350921.2

p.N103N

c.309T>C

NM_001350921.2

p.G105Splc

c.313+33121G>T

NM_001350921.2

p.D115A

c.344A>C

NM_001350921.2

p.K135_E136Splc

c.405+2T>C