Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

NM_001195518.2

p.R185*

c.553C>T

NM_001195518.2

p.R129P

c.386G>C

NM_001195518.2

p.M1V

c.1A>G

NM_001195518.2

p.K357_G358Splc

c.1072-1G>C

NM_001195518.2

p.R54Splc

c.161+1G>A

NM_001195518.2

p.R129*

c.385C>T

NM_001195518.2

p.R18*

c.52C>T

NM_006077.4

p.Q185*

c.553C>T

NM_001195518.2

p.E432delFs

c.1295delT

NM_001195518.2

p.H165Splc

c.493+1G>A

NM_006077.4

p.K359_G360Splc

c.1078-1G>C

NM_001195518.2

p.A14fs

c.40_41fs