Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

NM_001083893.2

p.A84A

c.252G>C

NM_001083893.2

p.N471S

c.1412A>G

NM_001083893.2

p.G13fs

c.37_38fs

NM_001083893.2

p.G13_A15delFs

c.37_43del7

NM_001083893.2

p.A16T

c.46G>A

NM_001083893.2

p.P18H

c.53C>A

NM_001083893.2

p.A37_P43del7

c.109_128del21

NM_001083893.2

p.A49G

c.146C>G

NM_001083893.2

p.E56G

c.167A>G

NM_001083893.2

p.R96W

c.286C>T

NM_001083893.2

p.Q107E

c.319C>G

NM_001083893.2

p.K119N

c.357G>T