Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

NM_172138.2

p.R188*

c.562C>T

NM_172138.2

p.T6I

c.17C>T

NM_172138.2

p.K168_E169Splc

c.504+2T>C

NM_172138.2

p.T6A

c.16A>G

NM_172138.2

p.A29G

c.86C>G

NM_172138.2

p.H32R

c.95A>G

NM_172138.2

p.C41*

c.123C>A

NM_172138.2

p.Q52*

c.154C>T

NM_172138.2

p.R78C

c.232C>T

NM_172138.2

p.R78H

c.233G>A

NM_172138.2

p.W84L

c.251G>T

NM_172138.2

p.L89M

c.265C>A