Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001319999.2

p.H507L

c.1520A>T

Surrounding Variants

NM_001319999.2

p.D513_P514ins3

c.1539_1540ins9

NM_001319999.2

p.L496M

c.1486C>A

NM_001319999.2

p.D520N

c.1558G>A

NM_001319999.2

p.R523H

c.1568G>A

NM_001319999.2

p.Q524H

c.1572A>T

NM_001319999.2

p.Q524H

c.1572A>C

NM_001319999.2

p.R530H

c.1589G>A

NM_001319999.2

p.E548E

c.1644G>A

NM_001319999.2

p.L553I

c.1657C>A

NM_001319999.2

p.L553Q

c.1658T>A

NM_001319999.2

p.L553fs

c.1657_1658fs

NM_001319999.2

p.L553delFs

c.1658delA