Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

NM_173348.2

p.G571R

c.1711G>A

NM_173348.2

p.G571R

c.1711G>C

NM_173348.2

p.K119delFs

c.356_357delAG

NM_173348.2

p.K119fs

c.355_356fs

NM_173348.2

p.M1del1

c.1_2delATG

NM_173348.2

p.D356_L357del2

c.1066_1070del6

NM_173348.2

p.Q118fs

c.352_353fs

NM_173348.2

p.Q118_K119Fs

c.354_357delinsCACTCFs

NM_173348.2

p.Q147*

c.439C>T

NM_173348.2

p.P310P

c.930C>T

NM_173348.2

p.Q414Q

c.1242G>A

NM_173348.2

p.R468Q

c.1403G>A