Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_017533.2

p.L342Q

c.1025T>A

Surrounding Variants

NM_017533.2

p.D336_S337Splc

c.1009-2A>C

NM_017533.2

p.G357R

c.1069G>C

NM_017533.2

p.G357R

c.1069G>A

NM_017533.2

p.N394_S395del2

c.1180_1184del6

NM_017533.2

p.V409D

c.1226T>A

NM_017533.2

p.E412G

c.1235A>G

NM_017533.2

p.T419S

c.1255A>T

NM_017533.2

p.Q422H

c.1266G>T

NM_017533.2

p.Q422H

c.1266G>C

NM_017533.2

p.R445H

c.1334G>A

NM_017533.2

p.Q448_Q449del2

c.1342_1346del6

NM_017533.2

p.D451fs

c.1351_1352fs