Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

NM_001290258.2

p.R282*

c.844C>T

NM_001290258.2

p.G357A

c.1070G>C

NM_001290258.2

p.E9K

c.25G>A

NM_001290258.2

p.I56I

c.168T>A

NM_001290258.2

p.V236M

c.706G>A

NM_001290258.2

p.A240fs

c.718_719fs

NM_001290258.2

p.D241delFs

c.721delG

NM_001290258.2

p.G403*

c.1207G>T

NM_001290258.2

p.R546*

c.1636C>T

NM_001290258.2

p.Y578*

c.1734T>A

NM_001290258.2

p.Y578*

c.1734T>G

NM_001290258.2

p.Q22*

c.64C>T