Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_015672.2

p.A396_E397del1

c.1187_1189delCCG

NM_015672.2

p.D1091E

c.3273T>G

NM_015672.2

p.D1091E

c.3273T>A

NM_015672.2

p.A132_R133delFs

c.396_397delGG

NM_015672.2

p.A396E

c.1187C>A

NM_015672.2

p.A396_E397del2

c.1186_1190del6

NM_015672.2

p.S653_G654insFs

c.1959_1960insCC

NM_015672.2

p.R949S

c.2847G>T

NM_015672.2

p.R949S

c.2847G>C

NM_015672.2

p.G951S

c.2851G>A

NM_015672.2

p.A1054V

c.3161C>T

NM_015672.2

p.M1187_H1189del3

c.3559_3566del9