Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001195.5

p.D348N

c.1042G>A

Surrounding Variants

NM_001195.5

p.K347R

c.1040A>G

NM_001278608.2

p.D209Splc

c.625+3A>G

NM_001195.5

p.D348Splc

c.1042+3A>G

NM_001195.5

p.G346G

c.1038G>T

NM_001195.5

p.G345S

c.1033G>A

NM_001195.5

p.E326*

c.976G>T

NM_001195.5

p.R319_S322delFs

c.957_966del10

NM_001424338.1

p.R283W

c.847A>T

NM_001195.5

p.R319Splc

c.957-3C>G

NM_001195.5

p.I315_E316insC

c.943_947ins3

NM_001424338.1

p.R275C

c.823C>T

NM_001195.5

p.R311C

c.931C>T

NM_001195.5

p.D348N

c.1042G>A

NM_001195.5

p.L302P

c.905T>C