Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001038.6

p.R508*

c.1522C>T

NM_001159576.2

p.R567*

c.1699C>T

Surrounding Variants

NM_001038.6

p.S507L

c.1520C>T

NM_001038.6

p.M505_L506del2

c.1513_1517del6

NM_001038.6

p.L506insFs

c.1516dupC

NM_001038.6

p.N511S

c.1532A>G

NM_001038.6

p.V514I

c.1540G>A

NM_001038.6

p.N515N

c.1545C>T

NM_001038.6

p.Q499_E500Splc

c.1497+56C>G

NM_001038.6

p.Q499_E500Splc

c.1497+6G>C

NM_001038.6

p.Q499H

c.1497G>C

NM_001038.6

p.G520A

c.1559G>C

NM_001038.6

p.Q499R

c.1496A>G

NM_001038.6

p.A522T

c.1564G>A