Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001321527.2

p.R14K

c.41G>A

Surrounding Variants

NM_001321527.2

p.P38S

c.112C>T

NM_001321527.2

p.R49H

c.146G>A

NM_001321527.2

p.R84Splc

c.252-2A>G

NM_001321527.2

p.G126insFs

c.377_378insT

NM_001321527.2

p.G131V

c.392G>T

NM_001321527.2

p.V137V

c.411G>A

NM_001321527.2

p.R157H

c.470G>A

NM_001321527.2

p.L266F

c.796C>T

NM_001321527.2

p.P298S

c.892C>T

NM_001321527.2

p.A347T

c.1039G>A

NM_001321527.2

p.H377R

c.1130A>G

NM_001321527.2

p.Q385_E386Splc

c.1156-1G>A