Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_001004466.2

p.L216P

c.647T>C

NM_001004466.2

p.I68M

c.204C>G

NM_001004466.2

p.K186Q

c.556A>C

NM_001004466.2

p.C204G

c.610T>G

NM_001004466.2

p.A224D

c.671C>A

NM_001004466.2

p.Q2fs

c.4_5fs

NM_001004466.2

p.Q2delFs

c.6delG

NM_001004466.2

p.T48T

c.144T>C

NM_001004466.2

p.R80H

c.239G>A

NM_001004466.2

p.L85Q

c.254T>A

NM_001004466.2

p.R90C

c.268C>T

NM_001004466.2

p.S99S

c.297T>C