Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001393982.1

p.G499R

c.1495G>C

Surrounding Variants

NM_001393982.1

p.G499R

c.1495G>A

NM_001393982.1

p.K497_E498Splc

c.1492-1G>T

NM_001393982.1

p.P503L

c.1508C>T

NM_001393982.1

p.V511Splc

c.1532-74C>A

NM_001393982.1

p.V511Splc

c.1532-8C>T

NM_001393982.1

p.V511Splc

c.1532-4G>T

NM_001393982.1

p.V511fs

c.1531_1532fs

NM_001393982.1

p.Q515*

c.1543C>T

NM_001393982.1

p.P516P

c.1548G>A

NM_001393982.1

p.T520M

c.1559C>T

NM_001393982.1

p.T520_H521Splc

c.1560+5A>G

NM_001393982.1

p.T522T

c.1566G>T