Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001005920.4

p.D138N

c.412G>A

NM_001005920.4

p.P34delFs

c.100delG

NM_001005920.4

p.A79_L80delFs

c.236_239del4

NM_001005920.4

p.A100del1

c.298_299delGGC

NM_001005920.4

p.V108M

c.322G>A

NM_001005920.4

p.V108Splc

c.323-6C>T

NM_001005920.4

p.G129G

c.387C>A

NM_001005920.4

p.D131N

c.391G>A

NM_001005920.4

p.D131N

c.391G>A

NM_001005920.4

p.A164T

c.490G>A

NM_001005920.4

p.T203M

c.608C>T