Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_017799.4

p.E582Q

c.1744G>C

Surrounding Variants

NM_017799.4

p.W581*

c.1743G>A

NM_017799.4

p.W581*

c.1742G>A

NM_017799.4

p.Q591L

c.1772A>T

NM_017799.4

p.R593Splc

c.1779-4C>G

NM_017799.4

p.A619T

c.1855G>A

NM_017799.4

p.Q620*

c.1858C>T

NM_017799.4

p.D623_L624Splc

c.1869+1G>A

NM_017799.4

p.D623_L624Splc

c.1869+1G>T

NM_017799.4

p.Y567fs

c.1699_1700fs

NM_017799.4

p.S565N

c.1694G>A

NM_017799.4

p.I566_Y567delFs

c.1698_1701del4

NM_017799.4

p.S565delFs

c.1694delG