Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000503.6

p.W572*

c.1715G>A

Surrounding Variants

NM_000503.6

p.W572L

c.1715G>T

NM_000503.6

p.W572*

c.1716G>A

NM_172060.4

p.A535_M536delFs

c.1603_1607del5

NM_000503.6

p.I574I

c.1722C>T

NM_172060.4

p.M536T

c.1607T>C

NM_000503.6

p.H567fs

c.1699_1700fs

NM_000503.6

p.S578L

c.1733C>T

NM_172060.4

p.K533_H534Splc

c.1600-3C>T

NM_000503.6

p.K566_H567Splc

c.1699-3C>T

NM_000503.6

p.D579delFs

c.1735delC

NM_000503.6

p.D579fs

c.1735_1736fs

NM_000503.6

p.H577_A582delFs

c.1730_1745del16

NM_000503.6

p.L583P

c.1748T>C