Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001135197.2

p.S483delFs

c.1449delT

Surrounding Variants

NM_001135197.2

p.S483fs

c.1447_1448fs

NM_001135197.2

p.I482N

c.1445T>A

NM_001135197.2

p.Q479*

c.1435C>T

NM_001135197.2

p.Y475_P478del4

c.1423_1433del12

NM_001135197.2

p.K470E

c.1408A>G

NM_001135197.2

p.L500P

c.1499T>C

NM_001135197.2

p.D440E

c.1320C>A

NM_001135197.2

p.D440E

c.1320C>G

NM_001135197.2

p.D440fs

c.1318_1319fs

NM_001135197.2

p.R527S

c.1581G>C

NM_001135197.2

p.R527S

c.1581G>T

NM_001135197.2

p.G438R

c.1312G>A