Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

NM_016286.4

p.D193delFs

c.579delG

NM_016286.4

p.G18Splc

c.52+1G>A

NM_016286.4

p.Q113Q

c.339G>A

NM_016286.4

p.S115S

c.345G>A

NM_016286.4

p.H146L

c.437A>T

NM_016286.4

p.W191S

c.572G>C

NM_016286.4

p.A218T

c.652G>A

NM_016286.4

p.F241L

c.721T>C

NM_016286.4

p.F241L

c.723C>G

NM_016286.4

p.F241L

c.723C>A

NM_016286.4

p.M1L

c.1A>T

NM_016286.4

p.M1L

c.1A>C