Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001346311.2

p.T253P

c.757A>C

Surrounding Variants

NM_001346311.2

p.E250A

c.749A>C

NM_001346311.2

p.Q249P

c.746A>C

NM_001346311.2

p.E246D

c.738A>C

NM_001346311.2

p.E246D

c.738A>T

NM_001346311.2

p.R232Splc

c.695+1G>C

NM_001346311.2

p.P228L

c.683C>T

NM_001346311.2

p.H214D

c.640C>G

NM_001346311.2

p.I212T

c.635T>C

NM_001346311.2

p.P206fs

c.616_617fs

NM_001346311.2

p.P206delFs

c.616delC

NM_001346311.2

p.M196I

c.588G>A

NM_001346311.2

p.M196I

c.588G>C