Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 243 variants

NM_030653.4

p.R263Q

c.788G>A

NM_030653.4

p.K897del1

c.2689_2690delAAG

NM_030653.4

p.R167T

c.500G>C

NM_030653.4

p.K50R

c.149A>G

NM_030653.4

p.R186W

c.556C>T

NM_030653.4

p.G588Splc

c.1763-1G>C

NM_030653.4

p.Q757_A758Splc

c.2271+2T>C

NM_030653.4

p.R558*

c.1672C>T

NM_030653.4

p.A607P

c.1819G>C

NM_030653.4

p.V272M

c.814G>A

NM_030653.4

p.R378P

c.1133G>C

NM_030653.4

p.L508R

c.1523T>G