Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 109 variants

NM_001164595.2

p.G116R

c.346G>A

NM_001164595.2

p.G116R

c.346G>C

NM_001164595.2

p.V92delFs

c.274_275delGT

NM_001164595.2

p.G152D

c.455G>A

NM_001164595.2

p.E274_I275del2

c.820_824del6

NM_001164595.2

p.E274_I275del1

c.821_823delAGA

NM_001164595.2

p.I279N

c.836T>A

NM_001164595.2

p.P315H

c.944C>A

NM_001164595.2

p.V403I

c.1207G>A

NM_001164595.2

p.G429S

c.1285G>A

NM_001164595.2

p.K821_V823del3

c.2461_2468del9

NM_001164595.2

p.L29L

c.87G>A