Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

NM_001008801.2

p.G477R

c.1429G>C

NM_001008801.2

p.L146S

c.437T>C

NM_001008801.2

p.I288S

c.863T>G

NM_001008801.2

p.P4S

c.10C>T

NM_001008801.2

p.Q5_G6Splc

c.16-2A>G

NM_001008801.2

p.F17S

c.50T>C

NM_001008801.2

p.Q19E

c.55C>G

NM_001008801.2

p.L32L

c.94T>C

NM_001008801.2

p.D48Splc

c.142+405G>A

NM_001008801.2

p.S60L

c.179C>T

NM_001008801.2

p.Q63R

c.188A>G

NM_001008801.2

p.S79G

c.235A>G