Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000478.6

p.N47I

c.140A>T

Surrounding Variants

NM_000478.6

p.N47H

c.139A>C

NM_000478.6

p.T48_V50insFs

c.144_148dup5

NM_000478.6

p.L46F

c.136C>T

NM_000478.6

p.L46_N49del4

c.136_146del12

NM_000478.6

p.N49I

c.146A>T

NM_000478.6

p.K45E

c.133A>G

NM_000478.6

p.V50M

c.148G>A

NM_000478.6

p.K45insFs

c.133_134dupAA

NM_000478.6

p.V50fs

c.148_149fs

NM_000478.6

p.Q44fs

c.130_131fs

NM_000478.6

p.Q44*

c.130C>T

NM_000478.6

p.A51S

c.151G>T