Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_017899.4

p.L53Q

c.158T>A

Surrounding Variants

NM_017899.4

p.L55F

c.163C>T

NM_017899.4

p.E54_L55del1

c.161_163delGCT

NM_017899.4

p.N56K

c.168C>A

NM_017899.4

p.S60F

c.179C>T

NM_017899.4

p.I62delFs

c.186delA

NM_017899.4

p.R43Splc

c.129-1G>C

NM_017899.4

p.R64P

c.191G>C

NM_017899.4

p.A65S

c.193G>T

NM_017899.4

p.F66Y

c.197T>A

NM_017899.4

p.D68insFs

c.203_204insA

NM_017899.4

p.R70Splc

c.209+3039A>T

NM_017899.4

p.L72fs

c.214_215fs