Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 177 variants

NM_001316349.2

p.L27W

c.80T>G

NM_001316349.2

p.W408*

c.1223G>A

NM_001316349.2

p.W408*

c.1224G>A

NM_001316349.2

p.Q420H

c.1260G>C

NM_001316349.2

p.Q420H

c.1260G>T

NM_001316349.2

p.D503E

c.1509T>A

NM_001316349.2

p.R574H

c.1721G>A

NM_001316349.2

p.R723Q

c.2168G>A

NM_001316349.2

p.R799Splc

c.2396+2C>T

NM_001316349.2

p.A889D

c.2666C>A

NM_001316349.2

p.S1334G

c.4000A>G

NM_001316349.2

p.L7R

c.20T>G