Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

NM_001085447.2

p.R168H

c.503G>A

NM_001085447.2

p.R298K

c.893G>A

NM_001085447.2

p.R381R

c.1143A>G

NM_001085447.2

p.M1del1

c.1_2delCAT

NM_001085447.2

p.R10W

c.28C>T

NM_001085447.2

p.P39L

c.116C>T

NM_001085447.2

p.R73C

c.217C>T

NM_001085447.2

p.E81*

c.241G>T

NM_001085447.2

p.S86F

c.257C>T

NM_001085447.2

p.T94A

c.280A>G

NM_001085447.2

p.E114Q

c.340G>C

NM_001085447.2

p.E116*

c.346G>T