Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 113 variants

NM_000483.5

p.K41T

c.122A>C

NM_000483.5

p.E69V

c.206A>T

NM_000483.5

p.K77Q

c.229A>C

NM_000483.5

p.Q92*

c.274C>T

NM_000483.5

p.M1V

c.1A>G

NM_000483.5

p.R4*

c.10C>T

NM_000483.5

p.E19Splc

c.55+1G>C

NM_000483.5

p.V40delFs

c.118delG

NM_000483.5

p.S45delFs

c.133_134delTC

NM_000483.5

p.W48R

c.142T>A

NM_000483.5

p.W48R

c.142T>C

NM_000483.5

p.Y59*

c.177C>A