Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_001174123.2

p.Q465*

c.1393C>T

NM_001174123.2

p.D16H

c.46G>C

NM_001174123.2

p.K30E

c.88A>G

NM_001174123.2

p.E35D

c.105G>C

NM_001174123.2

p.E35D

c.105G>T

NM_001174123.2

p.T56T

c.168A>C

NM_001174123.2

p.T56T

c.168A>G

NM_001174123.2

p.A71P

c.211G>C

NM_001174123.2

p.T121insFs

c.362_363ins8

NM_001174123.2

p.Q151R

c.452A>G

NM_001174123.2

p.E170Q

c.508G>C

NM_001174123.2

p.E170E

c.510G>A