Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001257357.2

p.D143V

c.428A>T

Surrounding Variants

NM_001257357.2

p.S127Y

c.380C>A

NM_001257357.2

p.R93W

c.277C>T

NM_001257357.2

p.K72*

c.214A>T

NM_001257357.2

p.D216V

c.647A>T

NM_001257357.2

p.R248Q

c.743G>A

NM_001257357.2

p.E266K

c.796G>A

NM_001257357.2

p.S339Splc

c.1017-72G>A

NM_001257357.2

p.Q351ins12

c.1051_1052ins36

NM_001257357.2

p.P391L

c.1172C>T

NM_001257357.2

p.P392delFs

c.1174delC

NM_001257357.2

p.P392fs

c.1174_1175fs

NM_001257357.2

p.P511R

c.1532C>G