Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

NM_001346194.2

p.L45fs

c.133_134fs

NM_001346194.2

p.R131H

c.392G>A

NM_001346194.2

p.V46M

c.136G>A

NM_001346194.2

p.T205A

c.613A>G

NM_001346194.2

p.E3G

c.8A>G

NM_001346194.2

p.D13E

c.39T>G

NM_001346194.2

p.D13E

c.39T>A

NM_001346194.2

p.F14_A18delFs

c.42_52del11

NM_001346194.2

p.L45F

c.133C>T

NM_001346194.2

p.N51S

c.152A>G

NM_001346194.2

p.I42_A52del11

c.124_155del33

NM_001346194.2

p.S56fs

c.166_167fs