Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000503.6

p.Q543*

c.1627C>T

Surrounding Variants

NM_000503.6

p.I541_I542insFs

c.1623_1626dup4

NM_000503.6

p.R540_I541insFs

c.1620_1621insT

NM_000503.6

p.E539*

c.1615G>T

NM_000503.6

p.R547*

c.1639A>T

NM_000503.6

p.R547G

c.1639A>G

NM_000503.6

p.C537R

c.1609T>C

NM_000503.6

p.K548insFs

c.1643_1644dupAA

NM_000503.6

p.K548delFs

c.1644delT

NM_000503.6

p.R547_V549delFs

c.1641_1645del5

NM_172060.4

p.R514_V516delFs

c.1542_1546del5

NM_000503.6

p.E535_S536delFs

c.1603_1607del5

NM_000503.6

p.V550A

c.1649T>C

NM_000503.6

p.E535fs

c.1603_1604fs