Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001330724.2

p.Q340H

c.1020G>C

Surrounding Variants

NM_001330724.2

p.Q340H

c.1020G>T

NM_001330724.2

p.L337P

c.1010T>C

NM_001330724.2

p.K335insFs

c.1004_1005insA

NM_001330724.2

p.Q340_D341Splc

c.1020+17C>T

NM_001330724.2

p.E333ins1

c.997_998insTCG

NM_001330724.2

p.R320fs

c.958_959fs

NM_001330724.2

p.N319insFs

c.957dupC

NM_001330724.2

p.K315_Q318del4

c.943_953del12

NM_001330724.2

p.K315fs

c.943_944fs

NM_001330724.2

p.D307Y

c.919G>T

NM_001330724.2

p.Q305*

c.913C>T

NM_001330724.2

p.V304A

c.911T>C