Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001010986.3

p.T418N

c.1253C>A

NM_001353812.2

p.T415N

c.1244C>A

Surrounding Variants

NM_001353812.2

p.T415S

c.1244C>G

NM_001353812.2

p.T415S

c.1243A>T

NM_001353812.2

p.T415A

c.1243A>G

NM_001010986.3

p.T450insFs

c.1349_1350ins13

NM_001353812.2

p.L448fs

c.1342_1343fs

NM_001010986.3

p.L451fs

c.1351_1352fs

NM_001353812.2

p.V454A

c.1361T>C

NM_001353812.2

p.L461L

c.1381C>T

NM_001353812.2

p.G556Splc

c.1666+2T>C

NM_001353812.2

p.I611delFs

c.1832_1833delAA

NM_001353812.2

p.A621delFs

c.1861delC

NM_001353812.2

p.E630K

c.1888G>A

NM_001353812.2

p.S394L

c.1181C>T