Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_001136002.2

p.Q200del1

c.598_599delCTG

NM_001136002.2

p.E30K

c.88G>A

NM_001136002.2

p.P45L

c.134C>T

NM_001136002.2

p.R56C

c.166C>T

NM_001136002.2

p.L67del1

c.199_201delCAG

NM_001136002.2

p.R76H

c.227G>A

NM_001136002.2

p.F77I

c.229T>A

NM_001136002.2

p.S98*

c.293C>A

NM_001136002.2

p.R113H

c.338G>A

NM_001136002.2

p.Q138R

c.413A>G

NM_001136002.2

p.Q199_R201del0

c.596_601del6

NM_001136002.2

p.Q199_R201del3

c.595_602del9