Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018986.5

p.H1071H

c.3213T>C

Surrounding Variants

NM_018986.5

p.A1076P

c.3226G>C

NM_018986.5

p.K1066E

c.3196A>G

NM_018986.5

p.D1062E

c.3186C>A

NM_018986.5

p.D1062E

c.3186C>G

NM_018986.5

p.R1084Q

c.3251G>A

NM_018986.5

p.L1088M

c.3262C>A

NM_001318480.2

p.Q1018_V1019Splc

c.3054+1G>A

NM_018986.5

p.Q1094_V1095Splc

c.3282+1G>A

NM_018986.5

p.E1011K

c.3031G>A

NM_018986.5

p.E1003K

c.3007G>A

NM_018986.5

p.M1000V

c.2998A>G

NM_018986.5

p.R987W

c.2959C>T

NM_018986.5

p.V1099L

c.3295G>C