Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001129890.2

p.T64I

c.191C>T

NM_001129890.2

p.K311_D312Splc

c.933+2T>A

NM_001129890.2

p.T16M

c.47C>T

NM_001129890.2

p.I18V

c.52A>G

NM_001129890.2

p.N46S

c.137A>G

NM_001129890.2

p.P54S

c.160C>T

NM_001129890.2

p.G101E

c.302G>A

NM_001129890.2

p.N117S

c.350A>G

NM_001129890.2

p.L119F

c.355C>T

NM_001129890.2

p.P123S

c.367C>T

NM_001129890.2

p.N187S

c.560A>G

NM_001129890.2

p.D220N

c.658G>A