Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 76 variants

NM_001159279.1

p.C148delFs

c.442_443delTG

NM_001159279.1

p.C148*

c.444T>A

NM_001159279.1

p.R178K

c.533G>A

NM_001159279.1

p.R322K

c.965G>A

NM_001159279.1

p.K409Q

c.1225A>C

NM_001159279.1

p.G6*

c.16G>T

NM_001159279.1

p.P7L

c.20C>T

NM_001159279.1

p.G9R

c.25G>A

NM_001159279.1

p.G9R

c.25G>C

NM_001159279.1

p.R19I

c.56G>T

NM_001159279.1

p.R50delFs

c.148delA

NM_001159279.1

p.L55L

c.165G>C