Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

NM_001142640.2

p.N615delFs

c.1844delA

NM_001142640.2

p.N615fs

c.1843_1844fs

NM_001142640.2

p.R78G

c.232C>G

NM_001142640.2

p.P81R

c.242C>G

NM_001142640.2

p.G112fs

c.334_335fs

NM_001142640.2

p.N332Y

c.994A>T

NM_001142640.2

p.S341N

c.1022G>A

NM_001142640.2

p.N465D

c.1393A>G

NM_001142640.2

p.N492T

c.1475A>C

NM_001142640.2

p.S544C

c.1630A>T

NM_001142640.2

p.G551_E552del1

c.1653_1655delGGA

NM_001142640.2

p.N615fs

c.1843_1844fs