Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001385001.1

p.D531G

c.1592A>G

Surrounding Variants

NM_001385001.1

p.D531H

c.1591G>C

NM_001159644.2

p.N128fs

c.382_383fs

NM_001159644.2

p.N128insFs

c.384dupT

NM_001385001.1

p.R542*

c.1624C>T

NM_001385001.1

p.T545M

c.1634C>T

NM_001385001.1

p.V548I

c.1642G>A

NM_001385001.1

p.L552P

c.1655T>C

NM_001385001.1

p.N557H

c.1669A>C

NM_001385001.1

p.F562Splc

c.1685+57T>C

NM_001385001.1

p.V573V

c.1719G>T

NM_001385001.1

p.P583A

c.1747C>G

NM_001385001.1

p.S596_I597Splc

c.1788+1G>A