Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001199417.2

p.K1040Q

c.3118A>C

Surrounding Variants

NM_001199417.2

p.L1020_I1021Splc

c.3061-49G>C

NM_001199417.2

p.L1017Q

c.3050T>A

NM_001199417.2

p.R1006H

c.3017G>A

NM_001199417.2

p.H1092_S1093Splc

c.3276+1G>A

NM_001199417.2

p.R986*

c.2956C>T

NM_001199417.2

p.G1104insFs

c.3310_3311insGA

NM_001199417.2

p.T1107fs

c.3319_3320fs

NM_001199417.2

p.G934R

c.2800G>A

NM_001199417.2

p.G934R

c.2800G>C

NM_001199417.2

p.N1126_I1127insFs

c.3378_3379insGA

NM_001199417.2

p.A902V

c.2705C>T