Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 122 variants

NM_001776.6

p.E6Splc

c.17-6T>C

NM_001776.6

p.K48_Y49Splc

c.145-1G>A

NM_001776.6

p.K48_Y49Splc

c.145-745C>G

NM_001776.6

p.E6Splc

c.17-1G>A

NM_001776.6

p.M134R

c.401T>G

NM_001776.6

p.Y49C

c.146A>G

NM_001776.6

p.H326delFs

c.978delT

NM_001776.6

p.K10Q

c.28A>C

NM_001776.6

p.L62*

c.185T>A

NM_001776.6

p.L62*

c.185T>G

NM_001776.6

p.E174*

c.520G>T

NM_001776.6

p.G210R

c.628G>A