Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001271675.2

p.T720A

c.2158A>G

NM_001271675.2

p.R48Q

c.143G>A

NM_001271675.2

p.R61R

c.183C>A

NM_001271675.2

p.S100T

c.299G>C

NM_001271675.2

p.Q134E

c.400C>G

NM_001271675.2

p.E164D

c.492A>T

NM_001271675.2

p.E230K

c.688G>A

NM_001271675.2

p.E231K

c.691G>A

NM_001271675.2

p.E320K

c.958G>A

NM_001271675.2

p.Q326P

c.977A>C

NM_001271675.2

p.Q487H

c.1461G>C

NM_001271675.2

p.L731P

c.2192T>C