Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001290258.2

p.A517V

c.1550C>T

Surrounding Variants

NM_001290258.2

p.A512V

c.1535C>T

NM_001290258.2

p.R522T

c.1565G>C

NM_001290258.2

p.E523G

c.1568A>G

NM_001290258.2

p.R528H

c.1583G>A

NM_001290258.2

p.I530V

c.1588A>G

NM_001290258.2

p.F481fs

c.1441_1442fs

NM_001290258.2

p.S457L

c.1370C>T

NM_001290258.2

p.L435M

c.1303T>A

NM_001290258.2

p.E429K

c.1285G>A

NM_001290258.2

p.D428N

c.1282G>A

NM_001290258.2

p.Q423K

c.1267C>A

NM_001290258.2

p.R417_P419delFs

c.1251_1257del7