Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001291867.2

p.S716N

c.2147G>A

Surrounding Variants

NM_001291867.2

p.P713_S721del0

c.2137_2163del27

NM_001291867.2

p.Q736H

c.2208G>C

NM_001291867.2

p.Q736H

c.2208G>T

NM_198270.4

p.H669P

c.2006A>C

NM_198270.4

p.H669delFs

c.2006delA

NM_198270.4

p.H669fs

c.2005_2006fs

NM_001291867.2

p.K744fs

c.2230_2231fs

NM_001291867.2

p.K744delFs

c.2232delG

NM_001291867.2

p.D746V

c.2237A>T

NM_001291867.2

p.C750delFs

c.2248delT

NM_001291867.2

p.S680N

c.2039G>A

NM_001136024.4

p.M579delFs

c.1735delA