Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001396.5

p.Y462C

c.1385A>G

NM_001347721.2

p.Y453C

c.1358A>G

Surrounding Variants

NM_001396.5

p.Y462H

c.1384T>C

NM_001347721.2

p.P455T

c.1363C>A

NM_001347721.2

p.D452_Y463del12

c.1354_1388del36

NM_001347721.2

p.M450insFs

c.1350dupG

NM_001396.5

p.R458M

c.1373G>T

NM_001396.5

p.R467insFs

c.1400dupG

NM_001396.5

p.R467*

c.1399C>T

NM_101395.2

p.R458*

c.1372C>T

NM_001396.5

p.R467Q

c.1400G>A

NM_001347721.2

p.R458Q

c.1373G>A

NM_001347721.2

p.R458L

c.1373G>T

NM_001396.5

p.R467_I468insFs

c.1401_1402insG

NM_101395.2

p.R467Fs

c.1401delinsGGFs

NM_101395.2

p.I468fs

c.1402_1403fs