Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

NM_002990.5

p.D2A

c.5A>C

NM_002990.5

p.A77D

c.230C>A

NM_002990.5

p.R3H

c.8G>A

NM_002990.5

p.Y40H

c.118T>C

NM_002990.5

p.L45Q

c.134T>A

NM_002990.5

p.L45R

c.134T>G

NM_002990.5

p.P46R

c.137C>G

NM_002990.5

p.R80G

c.238A>G

NM_002990.5

p.M1T

c.2T>C

NM_002990.5

p.D2ins1

c.4_5insTAC

NM_002990.5

p.Q5*

c.13C>T

NM_002990.5

p.Q5R

c.14A>G