Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001394336.1

p.S128del1

c.382_383delTCT

NM_001394336.1

p.P120_S121del1

c.359_361delCCT

NM_001394336.1

p.C381_Y383del3

c.1141_1148del9

NM_001394336.1

p.L19_V21delFs

c.57_61del5

NM_001394336.1

p.R33Q

c.98G>A

NM_001394336.1

p.R33delins

c.98_99delinsAA

NM_001394336.1

p.E40fs

c.118_119fs

NM_001394336.1

p.E40delFs

c.120delG

NM_001394336.1

p.G52delFs

c.154delG

NM_001394336.1

p.G52fs

c.154_155fs

NM_001394336.1

p.P96A

c.286C>G

NM_001394336.1

p.S171_Q182del12

c.511_545del36