Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001908.5

p.Q42_A43Splc

c.126+2T>C

Surrounding Variants

NM_001908.5

p.Q42_A43Splc

c.126+1G>C

NM_001908.5

p.Q42_A43Splc

c.126+1G>A

NM_001908.5

p.Q42*

c.124C>T

NM_001908.5

p.W41*

c.123G>A

NM_001908.5

p.W41*

c.122G>A

NM_001908.5

p.T39I

c.116C>T

NM_001908.5

p.T39insFs

c.116_117insT

NM_001908.5

p.R37_N38delFs

c.109_113del5

NM_001908.5

p.Y33delFs

c.98_99delAT

NM_001908.5

p.Y33insFs

c.98dupA

NM_001908.5

p.Y33F

c.98A>T

NM_001908.5

p.E29V

c.86A>T