Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

NM_012177.5

p.Q107E

c.319C>G

NM_012177.5

p.R398*

c.1192C>T

NM_012177.5

p.C401S

c.1201T>A

NM_012177.5

p.C401S

c.1202G>C

NM_012177.5

p.P21P

c.63C>T

NM_012177.5

p.S35Splc

c.103+2450A>G

NM_012177.5

p.K48R

c.143A>G

NM_012177.5

p.D67D

c.201C>T

NM_012177.5

p.T75A

c.223A>G

NM_012177.5

p.E80K

c.238G>A

NM_012177.5

p.C86C

c.258C>T

NM_012177.5

p.D144A

c.431A>C