Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 54 variants

NM_001242394.2

p.K127*

c.379A>T

NM_001242394.2

p.T208I

c.623C>T

NM_001242394.2

p.R24*

c.70C>T

NM_001242394.2

p.V69L

c.205G>C

NM_001242394.2

p.V69L

c.205G>T

NM_001242394.2

p.R172_L173Splc

c.516+1G>T

NM_001242394.2

p.T606N

c.1817C>A

NM_001242394.2

p.A2V

c.5C>T

NM_001242394.2

p.R15H

c.44G>A

NM_001242394.2

p.E16Q

c.46G>C

NM_001242394.2

p.L19F

c.55C>T

NM_001242394.2

p.K40T

c.119A>C