Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001276687.2

p.S6P

c.16T>C

NM_001276687.2

p.A9D

c.26C>A

NM_001276687.2

p.S12T

c.34T>A

NM_001276687.2

p.T27S

c.79A>T

NM_001276687.2

p.T27S

c.80C>G

NM_001276687.2

p.C29S

c.85T>A

NM_001276687.2

p.C29S

c.86G>C

NM_001276687.2

p.L39fs

c.115_116fs

NM_001276687.2

p.L39delFs

c.116delA

NM_001276687.2

p.A45D

c.134C>A

NM_001276687.2

p.C57*

c.171C>A