Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000199.5

p.Q307P

c.920A>C

Surrounding Variants

NM_000199.5

p.R304_Q307del0

c.911_919del9

NM_000199.5

p.E310K

c.928G>A

NM_000199.5

p.R304L

c.911G>T

NM_000199.5

p.A311D

c.932C>A

NM_000199.5

p.K303R

c.908A>G

NM_000199.5

p.V313M

c.937G>A

NM_000199.5

p.E300V

c.899A>T

NM_000199.5

p.S298P

c.892T>C

NM_000199.5

p.D317H

c.949G>C

NM_000199.5

p.L316delFs

c.948delT

NM_000199.5

p.D317Splc

c.949+1G>C

NM_000199.5

p.P293S

c.877C>T