Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001130963.2

p.V39I

c.115G>A

NM_001130963.2

p.P74T

c.220C>A

NM_001130963.2

p.K75Q

c.223A>C

NM_001130963.2

p.V98L

c.292G>T

NM_001130963.2

p.V98L

c.292G>C

NM_001130963.2

p.E99K

c.295G>A

NM_001130963.2

p.R157Q

c.470G>A

NM_001130963.2

p.C176fs

c.526_527fs

NM_001130963.2

p.C176fs

c.526_527fs

NM_001130963.2

p.I217V

c.649A>G

NM_001130963.2

p.C245F

c.734G>T

NM_001130963.2

p.Q248*

c.742C>T