Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000478.6

p.A514A

c.1542G>T

Surrounding Variants

NM_000478.6

p.A514A

c.1542G>A

NM_000478.6

p.A514V

c.1541C>T

NM_000478.6

p.A514T

c.1540G>A

NM_000478.6

p.L511insFs

c.1532_1533insC

NM_000478.6

p.Y518_L523delFs

c.1553_1569del17

NM_000478.6

p.L511fs

c.1531_1532fs

NM_000478.6

p.Y518*

c.1554C>A

NM_000478.6

p.Y518*

c.1554C>G

NM_000478.6

p.L511del1

c.1531_1532delCTG

NM_000478.6

p.P519T

c.1555C>A

NM_000478.6

p.P519L

c.1556C>T

NM_000478.6

p.L520delFs

c.1558_1559delCT