Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001004749.2

p.L124R

c.371T>G

NM_001004749.2

p.S229F

c.686C>T

NM_001004749.2

p.E8K

c.22G>A

NM_001004749.2

p.H22Y

c.64C>T

NM_001004749.2

p.C32*

c.96C>A

NM_001004749.2

p.M81T

c.242T>C

NM_001004749.2

p.F98S

c.293T>C

NM_001004749.2

p.R122H

c.365G>A

NM_001004749.2

p.L130F

c.390A>C

NM_001004749.2

p.L130F

c.390A>T

NM_001004749.2

p.I147M

c.441T>G

NM_001004749.2

p.P158L

c.473C>T