Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_173521.5

p.C449*

c.1347T>A

NM_001378211.1

p.C513*

c.1539T>A

Surrounding Variants

NM_173521.5

p.S451delFs

c.1351delA

NM_001378211.1

p.S515delFs

c.1543delA

NM_001378211.1

p.P503Q

c.1508C>A

NM_001378211.1

p.S502N

c.1505G>A

NM_001378211.1

p.E528*

c.1582G>T

NM_001378211.1

p.D488delFs

c.1464delA

NM_001378211.1

p.L475L

c.1423C>T

NM_173521.5

p.L488delFs

c.1464delA

NM_173521.5

p.D489fs

c.1465_1466fs

NM_001378211.1

p.I559_K560del2

c.1675_1679del6

NM_001378211.1

p.E579E

c.1737G>A

NM_173521.5

p.R528*

c.1582C>T

NM_001378211.1

p.R592*

c.1774C>T

NM_001378211.1

p.C598R

c.1792T>C