Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_015329.4

p.Q538*

c.1612C>T

Surrounding Variants

NM_015329.4

p.S541S

c.1623G>A

NM_015329.4

p.D534H

c.1600G>C

NM_015329.4

p.L528F

c.1582C>T

NM_015329.4

p.L572L

c.1714C>T

NM_015329.4

p.I588L

c.1762A>C

NM_015329.4

p.P594fs

c.1780_1781fs

NM_015329.4

p.A601delFs

c.1801delG

NM_015329.4

p.A601fs

c.1801_1802fs

NM_015329.4

p.R516_E517Splc

c.1548+296G>C

NM_015329.4

p.E477K

c.1429G>A

NM_015329.4

p.D447insFs

c.1339_1340ins4

NM_015329.4

p.V436_L437Splc

c.1309-483C>T