Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

NM_001135556.2

p.T602A

c.1804A>G

NM_001135556.2

p.M1V

c.1A>G

NM_001135556.2

p.E12Q

c.34G>C

NM_001135556.2

p.K15fs

c.43_44fs

NM_001135556.2

p.R17H

c.50G>A

NM_001135556.2

p.A19E

c.56C>A

NM_001135556.2

p.E36_A37Splc

c.108+7C>G

NM_001135556.2

p.R54C

c.160C>T

NM_001135556.2

p.R54H

c.161G>A

NM_001135556.2

p.R56Q

c.167G>A

NM_001135556.2

p.P72L

c.215C>T

NM_001135556.2

p.P81insFs

c.242dupC