Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

NM_032602.2

p.S431N

c.1292G>A

NM_032602.2

p.R453W

c.1357C>T

NM_032602.2

p.E464K

c.1390G>A

NM_032602.2

p.Q493*

c.1477C>T

NM_032602.2

p.M1T

c.2T>C

NM_032602.2

p.L6F

c.18A>C

NM_032602.2

p.L6F

c.18A>T

NM_032602.2

p.A40G

c.119C>G

NM_032602.2

p.E42del1

c.124_125delGAG

NM_032602.2

p.D43N

c.127G>A

NM_032602.2

p.V44I

c.130G>A

NM_032602.2

p.D47A

c.140A>C