Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

NM_052846.2

p.L613S

c.1838T>C

NM_052846.2

p.H55P

c.164A>C

NM_052846.2

p.R363C

c.1087C>T

NM_052846.2

p.W461G

c.1381T>G

NM_052846.2

p.R473C

c.1417C>T

NM_052846.2

p.S532N

c.1595G>A

NM_052846.2

p.K56Splc

c.167+4A>G

NM_052846.2

p.R84W

c.250C>T

NM_052846.2

p.R99H

c.296G>A

NM_052846.2

p.V113L

c.337G>C

NM_052846.2

p.R119C

c.355C>T

NM_052846.2

p.L183fs

c.547_548fs