Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001099433.2

p.E685*

c.2053G>T

Surrounding Variants

NM_001099433.2

p.Q690*

c.2068C>T

NM_001099433.2

p.E698K

c.2092G>A

NM_001099433.2

p.G747S

c.2239G>A

NM_001099433.2

p.E752K

c.2254G>A

NM_001099433.2

p.E763*

c.2287G>T

NM_001099433.2

p.E763fs

c.2287_2288fs

NM_001099433.2

p.R774R

c.2322C>T

NM_001099433.2

p.Q666*

c.1996C>T

NM_001099433.2

p.R606fs

c.1816_1817fs

NM_001099433.2

p.E603_R604delFs

c.1808_1811del4

NM_001099433.2

p.E605Q

c.1813G>C

NM_001099433.2

p.E605K

c.1813G>A