Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014750.5

p.R173*

c.517C>T

Surrounding Variants

NM_014750.5

p.N168D

c.502A>G

NM_014750.5

p.K192_K193delFs

c.576_577delTT

NM_014750.5

p.V220A

c.659T>C

NM_014750.5

p.S244R

c.730A>C

NM_014750.5

p.S244R

c.732T>G

NM_014750.5

p.S244R

c.732T>A

NM_014750.5

p.P248P

c.744T>A

NM_014750.5

p.D257N

c.769G>A

NM_014750.5

p.K144delFs

c.431delT

NM_014750.5

p.K144fs

c.430_431fs

NM_014750.5

p.P128L

c.383C>T

NM_014750.5

p.G116R

c.346G>C