Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001080438.1

p.S49L

c.146C>T

Surrounding Variants

NM_001080438.1

p.R64H

c.191G>A

NM_001080438.1

p.R68del1

c.202_203delCCG

NM_001080438.1

p.V71V

c.213T>A

NM_001080438.1

p.W77fs

c.229_230fs

NM_001080438.1

p.I81fs

c.241_242fs

NM_001080438.1

p.F87insFs

c.259_260insG

NM_001080438.1

p.D88N

c.262G>A

NM_001080438.1

p.L105delins

c.313_314delinsGG

NM_001080438.1

p.L105fs

c.313_314fs

NM_001080438.1

p.L105_T106delFs

c.313_316del4

NM_001080438.1

p.I107insFs

c.320_321insA

NM_001080438.1

p.R112Splc

c.335+8C>A