Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001290474.2

p.R424L

c.1271G>T

Surrounding Variants

NM_001290474.2

p.R413Q

c.1238G>A

NM_001290474.2

p.R413W

c.1237C>T

NM_001290474.2

p.P441P

c.1323C>T

NM_001290474.2

p.P456S

c.1366C>T

NM_001290474.2

p.P391R

c.1172C>G

NM_001290474.2

p.D463Splc

c.1388-95C>G

NM_001290474.2

p.S466T

c.1396T>A

NM_001290474.2

p.T475_E476ins1

c.1425_1426insTTG

NM_001290474.2

p.T475_E476insFs

c.1425_1426ins5

NM_001290474.2

p.E476fs

c.1426_1427fs

NM_001290474.2

p.S483N

c.1448G>A

NM_001290474.2

p.E484D

c.1452G>C