Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001368809.2

p.A202S

c.604G>T

Surrounding Variants

NM_001368809.2

p.M201T

c.602T>C

NM_001368809.2

p.R197W

c.589C>T

NM_001368809.2

p.R197_K199del3

c.589_596del9

NM_001368809.2

p.R192Q

c.575G>A

NM_139156.4

p.R165fs

c.493_494fs

NM_139156.4

p.R165delFs

c.495delG

NM_001368809.2

p.V191L

c.571G>T

NM_001368809.2

p.A187_S189delFs

c.559_566del8

NM_001368809.2

p.L184_I196del13

c.550_587del39

NM_001368809.2

p.T181_D182insGAC

c.541_545ins9

NM_001368809.2

p.G177_V178Splc

c.532-1G>T

NM_001368809.2

p.G177_V178Splc

c.531+1G>C