Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_004275.5

p.G57Splc

c.169+2T>C

NM_004275.5

p.G114A

c.341G>C

NM_004275.5

p.G60A

c.179G>C

NM_004275.5

p.N90D

c.268A>G

NM_004275.5

p.L94P

c.281T>C

NM_004275.5

p.F122S

c.365T>C

NM_004275.5

p.G127D

c.380G>A

NM_004275.5

p.T128M

c.383C>T

NM_004275.5

p.R136W

c.406C>T

NM_004275.5

p.V142V

c.426G>A

NM_004275.5

p.P173P

c.519C>T

NM_004275.5

p.A182V

c.545C>T