Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018348.6

p.S526L

c.1577C>T

Surrounding Variants

NM_018348.6

p.G528*

c.1582G>T

NM_018348.6

p.I523V

c.1567A>G

NM_018348.6

p.L533L

c.1599G>A

NM_018348.6

p.K536*

c.1606A>T

NM_018348.6

p.E514*

c.1540G>T

NM_018348.6

p.Q541R

c.1622A>G

NM_018348.6

p.C511fs

c.1531_1532fs

NM_018348.6

p.S508Y

c.1523C>A

NM_018348.6

p.S508P

c.1522T>C

NM_018348.6

p.K500_K501delFs

c.1500_1501delTC

NM_018348.6

p.G499*

c.1495G>T

NM_018348.6

p.L497fs

c.1489_1490fs