Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001008272.2

p.A24A

c.72G>A

NM_001008272.2

p.D109N

c.325G>A

NM_001008272.2

p.I18I

c.54C>T

NM_001008272.2

p.D25Y

c.73G>T

NM_001008272.2

p.D32H

c.94G>C

NM_001008272.2

p.H44D

c.130C>G

NM_001008272.2

p.T60_V61Splc

c.181-66A>C

NM_001008272.2

p.S81*

c.242C>A

NM_001008272.2

p.S81*

c.242C>G

NM_001008272.2

p.M85V

c.253A>G

NM_001008272.2

p.L116L

c.348A>T

NM_001008272.2

p.G119Splc

c.356-4445G>A