Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001323289.2

p.E49Splc

c.146-1G>T

Surrounding Variants

NM_001323289.2

p.E49Splc

c.146-1G>A

NM_001323289.2

p.N50delFs

c.149delA

NM_001323289.2

p.E49fs

c.145_146fs

NM_001323289.2

p.N50fs

c.148_149fs

NM_001323289.2

p.E49Splc

c.146-6T>G

NM_001323289.2

p.E51insFs

c.151dupG

NM_001323289.2

p.E51*

c.151G>T

NM_001323289.2

p.E52_V53insT

c.154_158ins3

NM_001323289.2

p.E55_T56delFs

c.163_166del4

NM_001323289.2

p.K54fs

c.160_161fs

NM_001323289.2

p.K54E

c.160A>G

NM_001323289.2

p.E55del1

c.163_164delGAA