Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001301833.4

p.P48Splc

c.143+1G>A

NM_001301833.4

p.R72W

c.214C>T

NM_001301833.4

p.G111*

c.331G>T

NM_001301833.4

p.R121H

c.362G>A

NM_001301833.4

p.D129N

c.385G>A

NM_001301833.4

p.S146Splc

c.438-7C>T

NM_001301833.4

p.V185V

c.555G>C

NM_001301833.4

p.S205Y

c.614C>A

NM_001301833.4

p.E208D

c.624G>T

NM_001301833.4

p.E208D

c.624G>C

NM_001301833.4

p.I224L

c.670A>T

NM_001301833.4

p.N254_A255Splc

c.762+1G>C