Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_001145643.2

p.G48R

c.142G>C

NM_001145643.2

p.G48D

c.143G>A

NM_001145643.2

p.P3A

c.7C>G

NM_001145643.2

p.G13insFs

c.39dupG

NM_001145643.2

p.H14_P17delFs

c.40_50del11

NM_001145643.2

p.H14fs

c.40_41fs

NM_001145643.2

p.P25_G26delins

c.75_77delinsCCA

NM_001145643.2

p.G26fs

c.76_77fs

NM_001145643.2

p.G26D

c.77G>A

NM_001145643.2

p.G28G

c.84C>T

NM_001145643.2

p.H37delFs

c.109delC

NM_001145643.2

p.H37fs

c.109_110fs