Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001130045.2

p.S448N

c.1343G>A

Surrounding Variants

NM_001130045.2

p.T450A

c.1348A>G

NM_001130045.2

p.T450M

c.1349C>T

NM_001130045.2

p.R445C

c.1333C>T

NM_001130045.2

p.T436M

c.1307C>T

NM_001130045.2

p.K467K

c.1401G>A

NM_001130045.2

p.Q420_F421Splc

c.1261-1G>A

NM_001130045.2

p.K467_K468Splc

c.1401+98G>A

NM_001130045.2

p.G414D

c.1241G>A

NM_001130045.2

p.D407N

c.1219G>A

NM_153254.3

p.R327H

c.980G>A

NM_001130045.2

p.R400H

c.1199G>A

NM_001130045.2

p.R400G

c.1198C>G

NM_001130045.2

p.R400C

c.1198C>T