Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 225 variants

NM_001287491.2

p.R752C

c.2254C>T

NM_001287491.2

p.V908L

c.2722G>C

NM_001287491.2

p.V908L

c.2722G>T

NM_001287491.2

p.C246*

c.738C>A

NM_001287491.2

p.F1072C

c.3215T>G

NM_001287491.2

p.A1076T

c.3226G>A

NM_001287491.2

p.V1089M

c.3265G>A

NM_001287491.2

p.H1660fs

c.4978_4979fs

NM_001287491.2

p.Q1695*

c.5083C>T

NM_001287491.2

p.W1746L

c.5237G>T

NM_001287491.2

p.T1749fs

c.5245_5246fs

NM_001287491.2

p.P563S

c.1687C>T