Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_020530.6

p.K44T

c.131A>C

Surrounding Variants

NM_020530.6

p.D47N

c.139G>A

NM_020530.6

p.D47G

c.140A>G

NM_020530.6

p.D47A

c.140A>C

NM_020530.6

p.L39_G40insG

c.115_119ins3

NM_020530.6

p.Q50*

c.148C>T

NM_020530.6

p.E34*

c.100G>T

NM_020530.6

p.L55P

c.164T>C

NM_020530.6

p.L56V

c.166C>G

NM_020530.6

p.S30I

c.89G>T

NM_020530.6

p.P58L

c.173C>T

NM_020530.6

p.P58P

c.174C>G

NM_020530.6

p.A26_A27insFs

c.78_79insC