Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 50 variants

NM_001161499.2

p.S183delins

c.547_548delinsAT

NM_001161499.2

p.P252delins

c.754_755delinsAT

NM_001161499.2

p.V542I

c.1624G>A

NM_001161499.2

p.E4Q

c.10G>C

NM_001161499.2

p.E73Q

c.217G>C

NM_001161499.2

p.V74F

c.220G>T

NM_001161499.2

p.E105Q

c.313G>C

NM_001161499.2

p.H144Y

c.430C>T

NM_001161499.2

p.I169M

c.507A>G

NM_001161499.2

p.S189S

c.567A>T

NM_001161499.2

p.L213L

c.637C>T

NM_001161499.2

p.P252R

c.755C>G