Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000554.6

p.R48Q

c.143G>A

Surrounding Variants

NM_000554.6

p.R48W

c.142C>T

NM_000554.6

p.T47I

c.140C>T

NM_000554.6

p.T45A

c.133A>G

NM_000554.6

p.E52*

c.154G>T

NM_000554.6

p.T44N

c.131C>A

NM_000554.6

p.T44insFs

c.131_132insC

NM_000554.6

p.T44fs

c.130_131fs

NM_000554.6

p.E53K

c.157G>A

NM_000554.6

p.E53fs

c.157_158fs

NM_000554.6

p.E53G

c.158A>G

NM_000554.6

p.E53V

c.158A>T

NM_000554.6

p.E53delFs

c.159delG