Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

NM_001547.5

p.E79A

c.236A>C

NM_001547.5

p.S2Splc

c.5+1G>C

NM_001547.5

p.S2Splc

c.6-2A>G

NM_001547.5

p.R109*

c.325C>T

NM_001547.5

p.K121R

c.362A>G

NM_001547.5

p.R184_L185insFs

c.552_553ins4

NM_001547.5

p.M1T

c.2T>C

NM_001547.5

p.M107L

c.319A>T

NM_001547.5

p.N154S

c.461A>G

NM_001547.5

p.A319T

c.955G>A

NM_001547.5

p.D352E

c.1056C>A

NM_001547.5

p.D352E

c.1056C>G