Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 148 variants

NM_001320714.2

p.Q1136*

c.3406C>T

NM_001320714.2

p.R1217S

c.3651G>T

NM_001320714.2

p.V2123L

c.6367G>C

NM_001320714.2

p.V2123L

c.6367G>T

NM_001320714.2

p.T2249S

c.6745A>T

NM_001320714.2

p.T2249S

c.6746C>G

NM_001320714.2

p.I21delFs

c.62delT

NM_001320714.2

p.K23_A24delFs

c.68_71del4

NM_001320714.2

p.S40*

c.119C>A

NM_001320714.2

p.S40*

c.119C>G

NM_001320714.2

p.K46M

c.137A>T

NM_001320714.2

p.A68_L71del4

c.202_212del12