Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001164257.2

p.E97del1

c.289_290delGAG

NM_001164257.2

p.T24S

c.70A>T

NM_001164257.2

p.T24S

c.71C>G

NM_001164257.2

p.W31delFs

c.92delG

NM_001164257.2

p.V43G

c.128T>G

NM_001164257.2

p.P73H

c.218C>A

NM_001164257.2

p.P75S

c.223C>T

NM_001164257.2

p.P80H

c.239C>A

NM_001164257.2

p.E96_E97ins0

c.286_291dup6

NM_001164257.2

p.V100L

c.298G>T

NM_001164257.2

p.G121delFs

c.362delG