Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_015578.4

p.G115S

c.343G>A

NM_015578.4

p.R272C

c.814C>T

NM_015578.4

p.S103P

c.307T>C

NM_015578.4

p.N249S

c.746A>G

NM_015578.4

p.R448Q

c.1343G>A

NM_015578.4

p.T5delFs

c.13delA

NM_015578.4

p.T5fs

c.13_14fs

NM_015578.4

p.T46I

c.137C>T

NM_015578.4

p.R58Q

c.173G>A

NM_015578.4

p.L143F

c.429G>C

NM_015578.4

p.Q168E

c.502C>G

NM_015578.4

p.R171I

c.512G>T