Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

NM_173531.4

p.Q27*

c.79C>T

NM_173531.4

p.D460E

c.1380C>G

NM_173531.4

p.D460E

c.1380C>A

NM_173531.4

p.S23N

c.68G>A

NM_173531.4

p.Q27H

c.81G>T

NM_173531.4

p.Q27H

c.81G>C

NM_173531.4

p.S330*

c.989C>G

NM_173531.4

p.S330*

c.989C>A

NM_173531.4

p.A368T

c.1102G>A

NM_173531.4

p.Q57R

c.170A>G

NM_173531.4

p.L79fs

c.235_236fs

NM_173531.4

p.H100Q

c.300T>G