Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

NM_001029885.2

p.R126H

c.377G>A

NM_001029885.2

p.T127A

c.379A>G

NM_001029885.2

p.M1ins1

c.1_2insAAA

NM_001029885.2

p.T6I

c.17C>T

NM_001029885.2

p.W36L

c.107G>T

NM_001029885.2

p.R41Splc

c.123-4A>C

NM_001029885.2

p.L46Q

c.137T>A

NM_001029885.2

p.G47D

c.140G>A

NM_001029885.2

p.I49M

c.147C>G

NM_001029885.2

p.F50L

c.148T>C

NM_001029885.2

p.F50_S51del1

c.150_152delCTC

NM_001029885.2

p.F50L

c.150C>A