Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_139171.2

p.R19*

c.55C>T

NM_139171.2

p.D20delFs

c.58_59delTC

NM_139171.2

p.E159K

c.475G>A

NM_139171.2

p.S182*

c.545C>G

NM_139171.2

p.S182*

c.545C>A

NM_139171.2

p.V27F

c.79G>T

NM_139171.2

p.K32N

c.96G>T

NM_139171.2

p.K32N

c.96G>C

NM_139171.2

p.N82N

c.246T>C

NM_139171.2

p.S100C

c.298A>T

NM_139171.2

p.S100S

c.300T>C

NM_139171.2

p.I117M

c.351C>G