Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 50 variants

NM_006459.4

p.I291V

c.871A>G

NM_006459.4

p.V94A

c.281T>C

NM_006459.4

p.Q168_A169Splc

c.504+1G>A

NM_006459.4

p.G50V

c.149G>T

NM_006459.4

p.R255*

c.763C>T

NM_006459.4

p.D144Splc

c.430+1G>T

NM_006459.4

p.Q168_A169Splc

c.505-14C>G

NM_006459.4

p.Q65H

c.195G>T

NM_006459.4

p.Q65H

c.195G>C

NM_006459.4

p.R90Q

c.269G>A

NM_006459.4

p.E125G

c.374A>G

NM_006459.4

p.M1insFs

c.1_2ins13