Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001320870.2

p.G262D

c.785G>A

NM_001320870.2

p.C11R

c.31T>C

NM_001320870.2

p.F16L

c.46T>C

NM_001320870.2

p.F16L

c.48C>G

NM_001320870.2

p.F16L

c.48C>A

NM_001320870.2

p.R41delFs

c.121delG

NM_001320870.2

p.R41fs

c.121_122fs

NM_001320870.2

p.P68R

c.203C>G

NM_001320870.2

p.P68delins

c.203_204delinsGG

NM_001320870.2

p.A110S

c.328G>T

NM_001320870.2

p.K145fs

c.433_434fs

NM_001320870.2

p.K145E

c.433A>G