Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001257357.2

p.P392delFs

c.1174delC

Surrounding Variants

NM_001257357.2

p.P392fs

c.1174_1175fs

NM_001257357.2

p.P391L

c.1172C>T

NM_001257357.2

p.Q351ins12

c.1051_1052ins36

NM_001257357.2

p.S339Splc

c.1017-72G>A

NM_001257357.2

p.P511R

c.1532C>G

NM_001257357.2

p.R562W

c.1684C>T

NM_001257357.2

p.Q591*

c.1771C>T

NM_001257357.2

p.Q605K

c.1813C>A

NM_001257357.2

p.K680T

c.2039A>C

NM_001257357.2

p.K680I

c.2039A>T

NM_001257357.2

p.D688N

c.2062G>A

NM_001257357.2

p.S691ins3

c.2071_2072ins9