Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001318503.2

p.P152L

c.455C>T

NM_001318503.2

p.E94A

c.281A>C

NM_001318503.2

p.A151V

c.452C>T

NM_001318503.2

p.A220T

c.658G>A

NM_001318503.2

p.N326Y

c.976A>T

NM_001318503.2

p.M1K

c.2T>A

NM_001318503.2

p.S16L

c.47C>T

NM_001318503.2

p.R19Q

c.56G>A

NM_001318503.2

p.V44M

c.130G>A

NM_001318503.2

p.L50Q

c.149T>A

NM_001318503.2

p.P73delFs

c.217delC

NM_001318503.2

p.P74fs

c.220_221fs