Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014738.6

p.L78P

c.233T>C

Surrounding Variants

NM_014738.6

p.L81del1

c.241_242delCTG

NM_014738.6

p.S100P

c.298T>C

NM_014738.6

p.R118R

c.352C>A

NM_014738.6

p.R121fs

c.361_362fs

NM_014738.6

p.R126Q

c.377G>A

NM_014738.6

p.Q134K

c.400C>A

NM_014738.6

p.K27delFs

c.81delG

NM_014738.6

p.L165_H166insFs

c.495_496dupGC

NM_014738.6

p.H166fs

c.496_497fs

NM_014738.6

p.F197S

c.590T>C

NM_014738.6

p.G202insFs

c.606dupG

NM_014738.6

p.I203fs

c.607_608fs