Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 209 variants

NM_001029998.6

p.L74P

c.221T>C

NM_001029998.6

p.G112D

c.335G>A

NM_001029998.6

p.I241Splc

c.722-16A>G

NM_001029998.6

p.G130R

c.388G>C

NM_001029998.6

p.G130R

c.388G>A

NM_001029998.6

p.Q172*

c.514C>T

NM_001029998.6

p.R258Splc

c.774-1G>A

NM_001029998.6

p.R6G

c.16A>G

NM_001029998.6

p.R258Splc

c.773+1G>A

NM_001029998.6

p.P303L

c.908C>T

NM_001029998.6

p.I241fs

c.721_722fs

NM_001029998.6

p.A310T

c.928G>A