Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

NM_001394345.1

p.Q143R

c.428A>G

NM_001394345.1

p.I3S

c.8T>G

NM_001394345.1

p.N105N

c.315C>T

NM_001394345.1

p.E40del1

c.118_120delGAG

NM_001394345.1

p.Q143*

c.427C>T

NM_001394345.1

p.M1K

c.2T>A

NM_001394345.1

p.S14delFs

c.40delA

NM_001394345.1

p.H27N

c.79C>A

NM_001394345.1

p.G31R

c.91G>A

NM_001394345.1

p.G31R

c.91G>C

NM_001394345.1

p.E42A

c.125A>C

NM_001394345.1

p.E43K

c.127G>A