Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 231 variants

NM_014053.4

p.N121D

c.361A>G

NM_014053.4

p.C192R

c.574T>C

NM_014053.4

p.E364_G365Splc

c.1092+5G>A

NM_014053.4

p.A241T

c.721G>A

NM_014053.4

p.T544M

c.1631C>T

NM_014053.4

p.P221S

c.661C>T

NM_014053.4

p.G493R

c.1477G>A

NM_014053.4

p.G493R

c.1477G>C

NM_014053.4

p.A52P

c.154G>C

NM_014053.4

p.Y341C

c.1022A>G

NM_014053.4

p.R516Q

c.1547G>A

NM_014053.4

p.L160P

c.479T>C