Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 103 variants

NM_002543.4

p.K167N

c.501G>C

NM_002543.4

p.K167N

c.501G>T

NM_002543.4

p.L188_D189Splc

c.565-14A>G

NM_002543.4

p.L188_D189Splc

c.565-73C>T

NM_002543.4

p.D5G

c.14A>G

NM_002543.4

p.L227Splc

c.681-27G>T

NM_002543.4

p.K116Q

c.346A>C

NM_002543.4

p.L188_D189Splc

c.564+27G>C

NM_002543.4

p.L227Splc

c.681-70A>G

NM_002543.4

p.K22K

c.66A>G

NM_002543.4

p.C140S

c.418T>A

NM_002543.4

p.C140S

c.419G>C