Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 191 variants

NM_002578.5

p.R67C

c.199C>T

NM_002578.5

p.A365E

c.1094C>A

NM_002578.5

p.R419*

c.1255C>T

NM_002578.5

p.W446S

c.1337G>C

NM_002578.5

p.Y427H

c.1279T>C

NM_002578.5

p.T92_G93Splc

c.276+4A>G

NM_002578.5

p.K389N

c.1167G>C

NM_002578.5

p.K389N

c.1167G>T

NM_002578.5

p.R493C

c.1477C>T

NM_002578.5

p.S527G

c.1579A>G

NM_002578.5

p.D175E

c.525T>A

NM_002578.5

p.D175E

c.525T>G