Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001113525.2

p.F531S

c.1592T>C

Surrounding Variants

NM_001113525.2

p.R536L

c.1607G>T

NM_152287.4

p.Q450Splc

c.1350-2A>G

NM_001113525.2

p.G560D

c.1679G>A

NM_001113525.2

p.Q525*

c.1573C>T

NM_001113525.2

p.S519L

c.1556C>T

NM_001113525.2

p.H567Y

c.1699C>T

NM_001113525.2

p.E592A

c.1775A>C

NM_001113525.2

p.E605D

c.1815G>C

NM_001113525.2

p.E605D

c.1815G>T

NM_001113525.2

p.P611L

c.1832C>T

NM_001113525.2

p.E492Splc

c.1474+1G>A

NM_001113525.2

p.L488L

c.1464C>T