Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

NM_001320179.2

p.E157K

c.469G>A

NM_001320179.2

p.F226Y

c.677T>A

NM_001320179.2

p.D246N

c.736G>A

NM_001320179.2

p.E328V

c.983A>T

NM_001320179.2

p.F364L

c.1090T>C

NM_001320179.2

p.F364L

c.1092C>A

NM_001320179.2

p.F364L

c.1092C>G

NM_001320179.2

p.A29fs

c.85_86fs

NM_001320179.2

p.A43Splc

c.128-1G>T

NM_001320179.2

p.E62K

c.184G>A

NM_001320179.2

p.R168C

c.502C>T

NM_001320179.2

p.R180K

c.539G>A