Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_053285.2

p.S190L

c.569C>T

Surrounding Variants

NM_053285.2

p.N197N

c.591C>T

NM_053285.2

p.A181_T183delins

c.543_547delinsTTGAT

NM_053285.2

p.R162Splc

c.485+2T>C

NM_053285.2

p.S158S

c.474C>T

NM_053285.2

p.I146V

c.436A>G

NM_053285.2

p.G124A

c.371G>C

NM_053285.2

p.R119Splc

c.357-1G>A

NM_053285.2

p.E226K

c.676G>A

NM_053285.2

p.A228P

c.682G>C

NM_053285.2

p.R232Q

c.695G>A

NM_053285.2

p.R244*

c.730C>T

NM_053285.2

p.S247Y

c.740C>A