Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000100.4

p.Q22_V23Splc

c.67-1G>C

Surrounding Variants

NM_000100.4

p.V23V

c.69G>C

NM_000100.4

p.E28K

c.82G>A

NM_000100.4

p.E28A

c.83A>C

NM_000100.4

p.E29Q

c.85G>C

NM_000100.4

p.E29insFs

c.85_86insG

NM_000100.4

p.P36S

c.106C>T

NM_000100.4

p.P36P

c.108T>C

NM_000100.4

p.S42*

c.125C>G

NM_000100.4

p.S42*

c.125C>A

NM_000100.4

p.S45I

c.134G>T

NM_000100.4

p.K44_S45del1

c.132_134delCTC

NM_000100.4

p.Q46*

c.136C>T