Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 86 variants

NM_001371116.1

p.L297F

c.891G>C

NM_001371116.1

p.L297F

c.891G>T

NM_001371116.1

p.R537H

c.1610G>A

NM_001371116.1

p.R639C

c.1915C>T

NM_001371116.1

p.A172T

c.514G>A

NM_001371116.1

p.L717H

c.2150T>A

NM_001371116.1

p.G758C

c.2272G>T

NM_001371116.1

p.G16W

c.46G>T

NM_001371116.1

p.A21V

c.62C>T

NM_001371116.1

p.G23V

c.68G>T

NM_001371116.1

p.S57Fs

c.171delinsCTFs

NM_001371116.1

p.P58S

c.172C>T