Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

NM_001004695.2

p.V160A

c.479T>C

NM_001004695.2

p.W49R

c.145T>C

NM_001004695.2

p.W49R

c.145T>A

NM_001004695.2

p.P103L

c.308C>T

NM_001004695.2

p.A169V

c.506C>T

NM_001004695.2

p.A221S

c.661G>T

NM_001004695.2

p.G39S

c.115G>A

NM_001004695.2

p.L60H

c.179T>A

NM_001004695.2

p.S87N

c.260G>A

NM_001004695.2

p.T179A

c.535A>G

NM_001004695.2

p.M197R

c.590T>G

NM_001004695.2

p.E2fs

c.4_5fs