Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014811.5

p.R1052S

c.3156G>C

Surrounding Variants

NM_014811.5

p.R1052S

c.3156G>T

NM_014811.5

p.G1054insFs

c.3161dupG

NM_014811.5

p.R1052insFs

c.3154_3155insGG

NM_014811.5

p.R1052fs

c.3154_3155fs

NM_014811.5

p.V1055fs

c.3163_3164fs

NM_014811.5

p.S1044S

c.3132C>T

NM_014811.5

p.R1068Q

c.3203G>A

NM_014811.5

p.A1076V

c.3227C>T

NM_014811.5

p.G1077A

c.3230G>C

NM_014811.5

p.Q1085L

c.3254A>T

NM_014811.5

p.H1106L

c.3317A>T

NM_014811.5

p.G987fs

c.2959_2960fs