Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

NM_001080513.4

p.Q509*

c.1525C>T

NM_001080513.4

p.W397L

c.1190G>T

NM_001080513.4

p.Q509R

c.1526A>G

NM_001080513.4

p.Q509delins

c.1525_1526delinsTG

NM_001080513.4

p.L14L

c.42C>G

NM_001080513.4

p.A19D

c.56C>A

NM_001080513.4

p.P23H

c.68C>A

NM_001080513.4

p.E32K

c.94G>A

NM_001080513.4

p.P44A

c.130C>G

NM_001080513.4

p.T51M

c.152C>T

NM_001080513.4

p.S60L

c.179C>T

NM_001080513.4

p.T66I

c.197C>T