Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 98 variants

NM_006755.2

p.R192C

c.574C>T

NM_006755.2

p.R192H

c.575G>A

NM_006755.2

p.S171del1

c.511_512delTCC

NM_006755.2

p.S171F

c.512C>T

NM_006755.2

p.Q265delFs

c.793delC

NM_006755.2

p.G311R

c.931G>A

NM_006755.2

p.G311R

c.931G>C

NM_006755.2

p.N299del1

c.895_896delAAC

NM_006755.2

p.Y223*

c.669C>G

NM_006755.2

p.Q265fs

c.793_794fs

NM_006755.2

p.G311W

c.931G>T

NM_006755.2

p.S187F

c.560C>T