Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_032849.4

p.R67delFs

c.200delG

NM_032849.4

p.G20V

c.59G>T

NM_032849.4

p.R23C

c.67C>T

NM_032849.4

p.R23H

c.68G>A

NM_032849.4

p.D29Y

c.85G>T

NM_032849.4

p.G46S

c.136G>A

NM_032849.4

p.R59G

c.175A>G

NM_032849.4

p.R67fs

c.199_200fs

NM_032849.4

p.G69fs

c.205_206fs

NM_032849.4

p.E130Splc

c.388+11A>G

NM_032849.4

p.Q167_F168Splc

c.502-1G>T

NM_032849.4

p.P179S

c.535C>T