Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_080546.5

p.S644A

c.1930T>G

NM_080546.5

p.S126fs

c.376_377fs

NM_080546.5

p.K90fs

c.268_269fs

NM_080546.5

p.S126_D127delFs

c.377_380del4

NM_080546.5

p.I377_P380del4

c.1129_1139del12

NM_080546.5

p.A444P

c.1330G>C

NM_080546.5

p.D517fs

c.1549_1550fs

NM_080546.5

p.Y607N

c.1819T>A

NM_080546.5

p.E22A

c.65A>C

NM_080546.5

p.L34delFs

c.101delT

NM_080546.5

p.G43V

c.128G>T

NM_080546.5

p.Y65N

c.193T>A