Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 141 variants

NM_001371395.1

p.F317delFs

c.951delT

NM_001371395.1

p.R520*

c.1558C>T

NM_001371395.1

p.R57*

c.169C>T

NM_001371395.1

p.H132R

c.395A>G

NM_001371395.1

p.R338*

c.1012C>T

NM_001371395.1

p.F317fs

c.949_950fs

NM_001371395.1

p.E194delFs

c.581delA

NM_001371395.1

p.G293V

c.878G>T

NM_001371395.1

p.F317fs

c.949_950fs

NM_001371395.1

p.R99S

c.297G>T

NM_001371395.1

p.C190Splc

c.569+2T>C

NM_001371395.1

p.P242L

c.725C>T