Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 47 variants

NM_021178.5

p.R224*

c.670C>T

NM_021178.5

p.R104H

c.311G>A

NM_021178.5

p.T187A

c.559A>G

NM_021178.5

p.M1_S2insFs

c.3_4insA

NM_021178.5

p.E5K

c.13G>A

NM_021178.5

p.K18R

c.53A>G

NM_021178.5

p.S38G

c.112A>G

NM_021178.5

p.F41L

c.121T>C

NM_021178.5

p.F41L

c.123T>G

NM_021178.5

p.F41L

c.123T>A

NM_021178.5

p.R43R

c.129C>T

NM_021178.5

p.P49R

c.146C>G