Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_001330059.2

p.C156S

c.466T>A

NM_001330059.2

p.C156S

c.467G>C

NM_001330059.2

p.S29F

c.86C>T

NM_001330059.2

p.R295C

c.883C>T

NM_001330059.2

p.V13D

c.38T>A

NM_001330059.2

p.L20F

c.58C>T

NM_001330059.2

p.F24L

c.72C>A

NM_001330059.2

p.F40Splc

c.119-15737A>G

NM_001330059.2

p.P80H

c.239C>A

NM_001330059.2

p.A111V

c.332C>T

NM_001330059.2

p.T124Splc

c.371-7C>G

NM_001330059.2

p.S147*

c.440C>G