Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_013293.5

p.R191W

c.571C>T

Surrounding Variants

NM_013293.5

p.R189K

c.566G>A

NM_013293.5

p.P203R

c.608C>G

NM_013293.5

p.R240I

c.719G>T

NM_013293.5

p.D247G

c.740A>G

NM_013293.5

p.R257Splc

c.771-128A>G

NM_013293.5

p.A163D

c.488C>A

NM_013293.5

p.G143G

c.429A>G

NM_013293.5

p.V138L

c.412G>T

NM_013293.5

p.V138L

c.412G>C

NM_013293.5

p.S100A

c.298T>G

NM_013293.5

p.R97*

c.289C>T

NM_013293.5

p.R95fs

c.283_284fs