Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

NM_053055.5

p.S38C

c.113C>G

NM_053055.5

p.L17R

c.50T>G

NM_053055.5

p.S72P

c.214T>C

NM_053055.5

p.R81H

c.242G>A

NM_053055.5

p.L12P

c.35T>C

NM_053055.5

p.R30*

c.88C>T

NM_053055.5

p.L33R

c.98T>G

NM_053055.5

p.L33_R34Splc

c.99+743C>T

NM_053055.5

p.L33_R34Splc

c.99+2075C>T

NM_053055.5

p.S35*

c.104C>G

NM_053055.5

p.S35*

c.104C>A

NM_053055.5

p.D45H

c.133G>C