Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001093725.2

p.C498Y

c.1493G>A

Surrounding Variants

NM_001093725.2

p.I497M

c.1491C>G

NM_001093725.2

p.P483L

c.1448C>T

NM_001093725.2

p.Q514H

c.1542A>T

NM_001093725.2

p.Q514H

c.1542A>C

NM_001093725.2

p.K454N

c.1362A>T

NM_001093725.2

p.A430T

c.1288G>A

NM_001093725.2

p.P429L

c.1286C>T

NM_001093725.2

p.P429S

c.1285C>T

NM_001093725.2

p.S428fs

c.1282_1283fs

NM_001093725.2

p.R427H

c.1280G>A

NM_001093725.2

p.P422T

c.1264C>A

NM_001093725.2

p.S415del1

c.1243_1244delGGA