Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

NM_001142395.2

p.P134A

c.400C>G

NM_001142395.2

p.N12K

c.36T>A

NM_001142395.2

p.N12K

c.36T>G

NM_001142395.2

p.F25_E26delFs

c.75_76delTG

NM_001142395.2

p.A67E

c.200C>A

NM_001142395.2

p.A67V

c.200C>T

NM_001142395.2

p.G75_S76del2

c.223_227del6

NM_001142395.2

p.S76S

c.228T>C

NM_001142395.2

p.N108K

c.324C>A

NM_001142395.2

p.N108K

c.324C>G

NM_001142395.2

p.G118delFs

c.352delG

NM_001142395.2

p.G118fs

c.352_353fs