Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001321439.2

p.P310L

c.929C>T

NM_001321439.2

p.M1insFs

c.3dupG

NM_001321439.2

p.E11Splc

c.31+8C>T

NM_001321439.2

p.S49G

c.145A>G

NM_001321439.2

p.E57K

c.169G>A

NM_001321439.2

p.F77L

c.229T>C

NM_001321439.2

p.F77L

c.231C>G

NM_001321439.2

p.F77L

c.231C>A

NM_001321439.2

p.F80F

c.240C>T

NM_001321439.2

p.S81R

c.241A>C

NM_001321439.2

p.S81R

c.243C>G

NM_001321439.2

p.S81R

c.243C>A