Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001330230.2

p.R71W

c.211C>T

NM_001330230.2

p.R110R

c.328C>A

NM_001330230.2

p.S128G

c.382A>G

NM_001330230.2

p.C193Y

c.578G>A

NM_001330230.2

p.M1T

c.2T>C

NM_001330230.2

p.R18G

c.52A>G

NM_001330230.2

p.Q28*

c.82C>T

NM_001330230.2

p.R53*

c.157C>T

NM_001330230.2

p.P60S

c.178C>T

NM_001330230.2

p.R110Q

c.329G>A

NM_001330230.2

p.E150del1

c.448_450delGAG

NM_001330230.2

p.V171F

c.511G>T