Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001323289.2

p.E570*

c.1708G>T

Surrounding Variants

NM_001323289.2

p.T567M

c.1700C>T

NM_001323289.2

p.E575V

c.1724A>T

NM_001323289.2

p.M577fs

c.1729_1730fs

NM_001323289.2

p.M577_D578delFs

c.1731_1732delGG

NM_001323289.2

p.T562A

c.1684A>G

NM_001323289.2

p.T562fs

c.1684_1685fs

NM_001323289.2

p.T562_R563delFs

c.1684_1687del4

NM_001323289.2

p.S580_H581del2

c.1738_1742del6

NM_001323289.2

p.R559R

c.1675C>A

NM_001323289.2

p.R559*

c.1675C>T

NM_001323289.2

p.H581Y

c.1741C>T

NM_001323289.2

p.R558fs

c.1672_1673fs