Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001100164.2

p.R511H

c.1532G>A

Surrounding Variants

NM_001100164.2

p.R511L

c.1532G>T

NM_001100164.2

p.T512A

c.1534A>G

NM_001100164.2

p.E514K

c.1540G>A

NM_001100164.2

p.R521*

c.1561C>T

NM_001100164.2

p.R521Q

c.1562G>A

NM_001100164.2

p.R487R

c.1459A>C

NM_001100164.2

p.R485C

c.1453C>T

NM_001100164.2

p.S478Splc

c.1432+5G>A

NM_014721.3

p.D454H

c.1360G>C

NM_001100164.2

p.S434_S435insT

c.1300_1304ins3

NM_001100164.2

p.L532P

c.1595T>C

NM_001100164.2

p.K410R

c.1229A>G