Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

NM_019004.2

p.L1016M

c.3046C>A

NM_019004.2

p.K144fs

c.430_431fs

NM_019004.2

p.R229S

c.687G>C

NM_019004.2

p.R229S

c.687G>T

NM_019004.2

p.R808H

c.2423G>A

NM_019004.2

p.P36A

c.106C>G

NM_019004.2

p.S39F

c.116C>T

NM_019004.2

p.Y44C

c.131A>G

NM_019004.2

p.E96G

c.287A>G

NM_019004.2

p.A104S

c.310G>T

NM_019004.2

p.P106P

c.318C>A

NM_019004.2

p.Q130H

c.390G>C