Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_053064.5

p.K29_V30Splc

c.87+34G>A

NM_053064.5

p.N5N

c.15C>T

NM_053064.5

p.E22G

c.65A>G

NM_053064.5

p.K32M

c.95A>T

NM_053064.5

p.A43S

c.127G>T

NM_053064.5

p.D48Y

c.142G>T

NM_053064.5

p.V54L

c.160G>C

NM_053064.5

p.P60S

c.178C>T

NM_053064.5

p.C68S

c.202T>A

NM_053064.5

p.C68S

c.203G>C

NM_053064.5

p.A69S

c.205G>T

NM_053064.5

p.I70I

c.210C>T