Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001364171.2

p.L481R

c.1442T>G

Surrounding Variants

NM_001364171.2

p.D475H

c.1423G>C

NM_001364171.2

p.S469fs

c.1405_1406fs

NM_001364171.2

p.Q496*

c.1486C>T

NM_001364171.2

p.D499Y

c.1495G>T

NM_001364171.2

p.L501Splc

c.1502+5G>A

NM_144577.4

p.L464Splc

c.1391+5G>A

NM_144577.4

p.L464Splc

c.1391+7C>T

NM_001364171.2

p.Q468_S469Splc

c.1404+8A>G

NM_001364171.2

p.E452E

c.1356G>A

NM_001364171.2

p.S438S

c.1314C>T

NM_001364171.2

p.Q416fs

c.1246_1247fs

NM_001364171.2

p.I415N

c.1244T>A

NM_001364171.2

p.P505L

c.1514C>T