Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001416120.1

p.D91A

c.272A>C

NM_001416120.1

p.I52R

c.155T>G

NM_001416120.1

p.N152I

c.455A>T

NM_001416120.1

p.D157Y

c.469G>T

NM_001416120.1

p.G181insFs

c.543dupT

NM_001416120.1

p.I233_H234delFs

c.697_700del4

NM_001416120.1

p.N260D

c.778A>G

NM_001416120.1

p.G332_K333ins6

c.996_997ins18

NM_001416120.1

p.R392*

c.1174C>T

NM_001416120.1

p.R392L

c.1175G>T

NM_001416120.1

p.N429T

c.1286A>C

NM_001416120.1

p.R462G

c.1384C>G