Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 134 variants

NM_000706.5

p.F308L

c.922T>C

NM_000706.5

p.F308L

c.924C>G

NM_000706.5

p.F308L

c.924C>A

NM_000706.5

p.E324Splc

c.971-2A>C

NM_000706.5

p.F373I

c.1117T>A

NM_000706.5

p.R46L

c.137G>T

NM_000706.5

p.E48Q

c.142G>C

NM_000706.5

p.V66M

c.196G>A

NM_000706.5

p.D112A

c.335A>C

NM_000706.5

p.F136F

c.408T>C

NM_000706.5

p.D148N

c.442G>A

NM_000706.5

p.D148A

c.443A>C