Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001145315.2

p.S109A

c.325T>G

NM_001145315.2

p.Q24R

c.71A>G

NM_001145315.2

p.A40V

c.119C>T

NM_001145315.2

p.W96R

c.286T>C

NM_001145315.2

p.W96R

c.286T>A

NM_001145315.2

p.R107Q

c.320G>A

NM_001145315.2

p.I117_T118insFs

c.351_352insCT

NM_001145315.2

p.T118T

c.354A>C

NM_001145315.2

p.S125I

c.374G>T

NM_001145315.2

p.L161F

c.481C>T

NM_001145315.2

p.A168Splc

c.503-2A>C

NM_001145315.2

p.V208_A209insFs

c.624_625insCT