Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

NM_001282494.2

p.I492T

c.1475T>C

NM_001282494.2

p.A11D

c.32C>A

NM_001282494.2

p.K15*

c.43A>T

NM_001282494.2

p.A222V

c.665C>T

NM_001282494.2

p.K258delFs

c.772delA

NM_001282494.2

p.K258fs

c.772_773fs

NM_001282494.2

p.S324A

c.970T>G

NM_001282494.2

p.E355G

c.1064A>G

NM_001282494.2

p.Q390*

c.1168C>T

NM_001282494.2

p.M456T

c.1367T>C

NM_001282494.2

p.K464E

c.1390A>G

NM_001282494.2

p.D521H

c.1561G>C