Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

NM_182647.4

p.Q280H

c.840G>C

NM_182647.4

p.Q280H

c.840G>T

NM_182647.4

p.D130N

c.388G>A

NM_182647.4

p.D130E

c.390C>G

NM_182647.4

p.Y131F

c.392A>T

NM_182647.4

p.R157C

c.469C>T

NM_182647.4

p.R252*

c.754C>T

NM_182647.4

p.R256Q

c.767G>A

NM_182647.4

p.T277A

c.829A>G

NM_182647.4

p.Y309F

c.926A>T

NM_182647.4

p.S363A

c.1087T>G

NM_182647.4

p.P6H

c.17C>A