Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_003420.4

p.N193T

c.578A>C

Surrounding Variants

NM_003420.4

p.K189E

c.565A>G

NM_003420.4

p.K198_S199insFs

c.594_595insC

NM_003420.4

p.Q176*

c.526C>T

NM_003420.4

p.P221fs

c.661_662fs

NM_003420.4

p.P221insFs

c.662_663insT

NM_003420.4

p.F250fs

c.748_749fs

NM_003420.4

p.E131K

c.391G>A

NM_003420.4

p.E130A

c.389A>C

NM_003420.4

p.K257N

c.771G>C

NM_003420.4

p.K257N

c.771G>T

NM_003420.4

p.C129R

c.385T>C

NM_003420.4

p.I260S

c.779T>G