Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 73 variants

NM_001330677.2

p.H156N

c.466C>A

NM_001330677.2

p.R327H

c.980G>A

NM_001330677.2

p.M566R

c.1697T>G

NM_152380.3

p.K194_G195ins1

c.582_583insCAG

NM_001330677.2

p.P591S

c.1771C>T

NM_001330677.2

p.R5delFs

c.14_15delTC

NM_001330677.2

p.R14_A15del1

c.41_43delCTC

NM_001330677.2

p.R14_A15del2

c.40_44del6

NM_001330677.2

p.D41_S43del3

c.121_128del9

NM_001330677.2

p.G51V

c.152G>T

NM_001330677.2

p.G51A

c.152G>C

NM_001330677.2

p.E111fs

c.331_332fs