Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001017964.2

p.Q108_V109Splc

c.324+10C>G

Surrounding Variants

NM_001017964.2

p.P85L

c.254C>T

NM_001017964.2

p.E114delFs

c.341delT

NM_001017964.2

p.C119Y

c.356G>A

NM_001017964.2

p.R55Splc

c.164+13C>A

NM_001017964.2

p.R55Splc

c.164+5G>C

NM_001017964.2

p.A33A

c.99T>C

NM_001017964.2

p.R5C

c.13C>T

NM_001017964.2

p.L161R

c.482T>G

NM_001017964.2

p.F180fs

c.538_539fs

NM_001017964.2

p.F180delFs

c.540delG

NM_001017964.2

p.R220H

c.659G>A

NM_001017964.2

p.L229L

c.687G>A