Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

NM_001323043.2

p.Q237K

c.709C>A

NM_001323043.2

p.F492L

c.1474T>C

NM_001323043.2

p.F492L

c.1476C>G

NM_001323043.2

p.F492L

c.1476C>A

NM_001323043.2

p.S3insFs

c.7_8insA

NM_001323043.2

p.S3insFs

c.7dupT

NM_001323043.2

p.E5*

c.13G>T

NM_001323043.2

p.E5Q

c.13G>C

NM_001323043.2

p.W24fs

c.70_71fs

NM_001323043.2

p.W24_E25delFs

c.70_73del4

NM_001323043.2

p.Q30E

c.88C>G

NM_001323043.2

p.P48R

c.143C>G