Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001166293.2

p.Q405_Q406Splc

c.1216-6T>G

Surrounding Variants

NM_001166293.2

p.L420*

c.1259T>G

NM_001166293.2

p.L420*

c.1259T>A

NM_001166293.2

p.R421*

c.1261C>T

NM_001166293.2

p.L432V

c.1294C>G

NM_001166293.2

p.L403L

c.1209T>A

NM_001166293.2

p.L388del1

c.1162_1163delTAA

NM_001166293.2

p.S322insFs

c.964_965ins19

NM_001166293.2

p.L321Q

c.962T>A

NM_001166293.2

p.A318T

c.952G>A

NM_001166293.2

p.S490L

c.1469C>T

NM_001166293.2

p.A498P

c.1492G>C

NM_001166294.2

p.G498R

c.1492G>C