Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

NM_001243212.2

p.R195C

c.583C>T

NM_001243212.2

p.H220_Q221del1

c.660_662delTGG

NM_001243212.2

p.E33D

c.99G>T

NM_001243212.2

p.E33D

c.99G>C

NM_001243212.2

p.E64D

c.192G>T

NM_001243212.2

p.E64D

c.192G>C

NM_001243212.2

p.E160K

c.478G>A

NM_001243212.2

p.E232A

c.695A>C

NM_001243212.2

p.K253del1

c.757_758delCTT

NM_001243212.2

p.P2S

c.4C>T

NM_001243212.2

p.R4insFs

c.10dupC

NM_001243212.2

p.R4fs

c.10_11fs