Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001144936.2

p.R460Q

c.1379G>A

Surrounding Variants

NM_001144936.2

p.C442G

c.1324T>G

NM_001144936.2

p.P503P

c.1509C>T

NM_001144936.2

p.P503P

c.1509C>A

NM_001144936.2

p.P504insFs

c.1512dupC

NM_001144936.2

p.G505fs

c.1513_1514fs

NM_001144936.2

p.E512K

c.1534G>A

NM_001144936.2

p.Q348fs

c.1042_1043fs

NM_001144936.2

p.Q348delFs

c.1042delG

NM_001144936.2

p.P532L

c.1595C>T

NM_001144936.2

p.E545A

c.1634A>C

NM_001144936.2

p.E549K

c.1645G>A

NM_001144936.2

p.E554D

c.1662G>T