Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001013661.1

p.V47I

c.139G>A

NM_001013661.1

p.A147V

c.440C>T

NM_001013661.1

p.L176P

c.527T>C

NM_001013661.1

p.R324Splc

c.972-151C>G

NM_001013661.1

p.R23Q

c.68G>A

NM_001013661.1

p.D49N

c.145G>A

NM_001013661.1

p.D59G

c.176A>G

NM_001013661.1

p.Q64*

c.190C>T

NM_001013661.1

p.D68H

c.202G>C

NM_001013661.1

p.I111V

c.331A>G

NM_001013661.1

p.S110delFs

c.330delG

NM_001013661.1

p.I111fs

c.331_332fs