Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 95 variants

NM_015496.5

p.R1276H

c.3827G>A

NM_015496.5

p.R1694T

c.5081G>C

NM_015496.5

p.P18insFs

c.53_54insA

NM_015496.5

p.R48delFs

c.142_143delCT

NM_015496.5

p.A81T

c.241G>A

NM_015496.5

p.R130*

c.388A>T

NM_015496.5

p.S138F

c.413C>T

NM_015496.5

p.P141fs

c.421_422fs

NM_015496.5

p.P142_P143del1

c.426_428delGGT

NM_015496.5

p.P145L

c.434C>T

NM_015496.5

p.P142_P143del2

c.424_428del6

NM_015496.5

p.G181R

c.541G>C