Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018247.4

p.E79_I80Splc

c.238-1G>A

Surrounding Variants

NM_018247.4

p.Y82N

c.244T>A

NM_018247.4

p.C91S

c.271T>A

NM_018247.4

p.C91S

c.272G>C

NM_018247.4

p.C94R

c.280T>C

NM_018247.4

p.C102Y

c.305G>A

NM_018247.4

p.C104S

c.310T>A

NM_018247.4

p.C104S

c.311G>C

NM_018247.4

p.C104*

c.312T>A

NM_018247.4

p.E115_G116Splc

c.345+1G>C

NM_018247.4

p.L124P

c.371T>C

NM_018247.4

p.S125T

c.373T>A

NM_018247.4

p.S125fs

c.373_374fs